Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Experimental and Therapeutic Medicine
Join Editorial Board Propose a Special Issue
Print ISSN: 1792-0981 Online ISSN: 1792-1015
Journal Cover
January-2018 Volume 15 Issue 1

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
January-2018 Volume 15 Issue 1

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article

TBX1 loss‑of‑function mutation contributes to congenital conotruncal defects

  • Authors:
    • Min Zhang
    • Fu‑Xing Li
    • Xing‑Yuan Liu
    • Jing‑Yi Hou
    • Shi‑Hong Ni
    • Juan Wang
    • Cui‑Mei Zhao
    • Wei Zhang
    • Ye Kong
    • Ri‑Tai Huang
    • Song Xue
    • Yi‑Qing Yang
  • View Affiliations / Copyright

    Affiliations: Department of Pediatrics, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai 200072, P.R. China, Department of Pediatrics, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, P.R. China, Department of Pediatrics, Baoshan Branch of Huashan Hospital, Fudan University, Shanghai 200431, P.R. China, Department of Cardiology, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, P.R. China, Department of Cardiac Surgery, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai 200030, P.R. China, Department of Cardiovascular Surgery, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, P.R. China, Department of Cardiovascular Research Laboratory, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai 200030, P.R. China
  • Pages: 447-453
    |
    Published online on: October 24, 2017
       https://doi.org/10.3892/etm.2017.5362
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Conotruncal defects (CTDs) account for ~30% of all types of congenital heart disease and contribute to increased morbidity and mortality rates. Increasing evidence suggests that genetic risk factors are involved in the pathogenesis of CTDs. Mutations in a number of genes, including the TBX1 gene that codes for a T‑box transcription factor essential for normal cardiovascular development, may contribute to the development of CTD. CTDs are genetically heterogeneous and the genetic defects responsible for CTDs in the majority of patients remain unknown. The present study sequenced the coding regions and splicing junction boundaries of TBX1 in 136 patients with CTDs and 300 matched healthy individuals. The disease‑causing potential of the identified TBX1 sequence variation was evaluated using MutationTaster, PolyPhen‑2, SIFT and PROVEN software. The functional characteristics of the mutant TBX1 gene were defined using a dual‑luciferase reporter assay system. A novel heterozygous TBX1 mutation, p.S233Y, was identified in a patient with transposition of the great arteries (TGA) and a ventricular septal defect. This mutation was absent in the 300 controls and altered the amino acid produced, serine, which is evolutionarily conserved across several species, and was predicted to be pathogenic in silico. Luciferase assays conducted in COS‑7 cells demonstrated that the newly identified TBX1 mutation was associated with significantly diminished transcriptional activation of the ANF promoter compared with the wild‑type TBX1. To the best of our knowledge, the present study is the first to associate a TBX1 loss‑of‑function mutation with enhanced susceptibility to TGA, which adds significant insight to the molecular mechanism of TGA.
View Figures

Figure 1

Figure 2

Figure 3

View References

1 

Mozaffarian D, Benjamin EJ, Go AS, Arnett DK, Blaha MJ, Cushman M, de Ferranti S, Després JP, Fullerton HJ, Howard VJ, et al: Heart disease and stroke statistics-2015 update: A report from the American heart association. Circulation. 131:e29–e32. 2015. View Article : Google Scholar : PubMed/NCBI

2 

Agopian AJ, Mitchell LE, Glessner J, Bhalla AD, Sewda A, Hakonarson H and Goldmuntz E: Genome-wide association study of maternal and inherited loci for conotruncal heart defects. PLoS One. 9:e960572014. View Article : Google Scholar : PubMed/NCBI

3 

Zhang W, Shen L, Deng Z, Ding Y, Mo X, Xu Z, Gao Q and Yi L: Novel missense variants of ZFPM2/FOG2 identified in conotruncal heart defect patients do not impair interaction with GATA4. PLoS One. 9:e1023792014. View Article : Google Scholar : PubMed/NCBI

4 

Pan Y, Wang ZG, Liu XY, Zhao H, Zhou N, Zheng GF, Qiu XB, Li RG, Yuan F, Shi HY, et al: A novel TBX1 loss-of-function mutation associated with congenital heart disease. Pediatr Cardiol. 36:1400–1410. 2015. View Article : Google Scholar : PubMed/NCBI

5 

van der Bom T, Zomer AC, Zwinderman AH, Meijboom FJ, Bouma BJ and Mulder BJ: The changing epidemiology of congenital heart disease. Nat Rev Cardiol. 8:50–60. 2011. View Article : Google Scholar : PubMed/NCBI

6 

Müller J, Engelhardt A, Fratz S, Eicken A, Ewert P and Hager A: Improved exercise performance and quality of life after percutaneous pulmonary valve implantation. Int J Cardiol. 173:388–392. 2014. View Article : Google Scholar : PubMed/NCBI

7 

Valente AM, Gauvreau K, Assenza GE, Babu-Narayan SV, Evans SP, Gatzoulis M, Groenink M, Inuzuka R, Kilner PJ, Koyak Z, et al: Rationale and design of an International Multicenter Registry of patients with repaired tetralogy of Fallot to define risk factors for late adverse outcomes: The INDICATOR cohort. Pediatr Cardiol. 34:95–104. 2013. View Article : Google Scholar : PubMed/NCBI

8 

Tutarel O, Kempny A, Alonso-Gonzalez R, Jabbour R, Li W, Uebing A, Dimopoulos K, Swan L, Gatzoulis MA and Diller GP: Congenital heart disease beyond the age of 60: Emergence of a new population with high resource utilization, high morbidity, and high mortality. Eur Heart J. 35:725–732. 2014. View Article : Google Scholar : PubMed/NCBI

9 

Verheugt CL, Uiterwaal CS, van der Velde ET, Meijboom FJ, Pieper PG, Sieswerda GT, Plokker HW, Grobbee DE and Mulder BJ: The emerging burden of hospital admissions of adults with congenital heart disease. Heart. 96:872–878. 2010. View Article : Google Scholar : PubMed/NCBI

10 

Peyvandi S, Ingall E, Woyciechowski S, Garbarini J, Mitchell LE and Goldmuntz E: Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: An evaluation of 1,620 families. Am J Med Genet A. 164A:1–1495. 2014.PubMed/NCBI

11 

Racedo SE, McDonald-McGinn DM, Chung JH, Goldmuntz E, Zackai E, Emanuel BS, Zhou B, Funke B and Morrow BE: Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation. Am J Hum Genet. 96:235–244. 2015. View Article : Google Scholar : PubMed/NCBI

12 

Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, et al: De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. 350:1262–1266. 2015. View Article : Google Scholar : PubMed/NCBI

13 

Werner P, Latney B, Deardorff MA and Goldmuntz E: MESP1 mutations in patients with congenital heart defects. Hum Mutat. 37:308–314. 2016. View Article : Google Scholar : PubMed/NCBI

14 

Andersen TA, Kde L Troelsen and Larsen LA: Of mice and men: Molecular genetics of congenital heart disease. Cell Mol Life Sci. 71:1327–1352. 2014. View Article : Google Scholar : PubMed/NCBI

15 

Lalani SR and Belmont JW: Genetic basis of congenital cardiovascular malformations. Eur J Med Genet. 57:402–413. 2014. View Article : Google Scholar : PubMed/NCBI

16 

Warburton D, Ronemus M, Kline J, Jobanputra V, Williams I, Anyane-Yeboa K, Chung W, Yu L, Wong N, Awad D, et al: The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease. Hum Genet. 133:11–27. 2014. View Article : Google Scholar : PubMed/NCBI

17 

Liu AP, Chow PC, Lee PP, Mok GT, Tang WF, Lau ET, Lam ST, Chan KY, Kan AS, Chau AK, et al: Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: Implications in transitional care. Eur J Med Genet. 57:306–311. 2014. View Article : Google Scholar : PubMed/NCBI

18 

Chen M, Yang YS, Shih JC, Lin WH, Lee DJ, Lin YS, Chou CH, Cameron AD, Ginsberg NA, Chen CA, et al: Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization. Ultrasound Obstet Gynecol. 43:396–403. 2014. View Article : Google Scholar : PubMed/NCBI

19 

Guo T, Chung JH, Wang T, McDonald-McGinn DM, Kates WR, Hawuła W, Coleman K, Zackai E, Emanuel BS and Morrow BE: Histone modifier genes alter conotruncal heart phenotypes in 22q11.2 deletion syndrome. Am J Hum Genet. 97:869–877. 2015. View Article : Google Scholar : PubMed/NCBI

20 

Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, Chow EW, Vorstman J, Swillen A, et al: Copy-number variation of the glucose transporter gene SLC2A3 and congenital heart defects in the 22q11.2 deletion syndrome. Am J Hum Genet. 96:753–764. 2015. View Article : Google Scholar : PubMed/NCBI

21 

Hacıhamdioğlu B, Hacıhamdioğlu D and Delil K: 22q11 deletion syndrome: Current perspective. Appl Clin Genet. 8:123–132. 2015. View Article : Google Scholar : PubMed/NCBI

22 

Qu XK, Qiu XB, Yuan F, Wang J, Zhao CM, Liu XY, Zhang XL, Li RG, Xu YJ, Hou XM, et al: A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve. Am J Cardiol. 114:1891–1895. 2014. View Article : Google Scholar : PubMed/NCBI

23 

Zheng J, Li F, Liu J, Xu Z, Zhang H, Fu Q, Wang J and Sun K: Investigation of somatic NKX2-5 mutations in Chinese children with congenital heart disease. Int J Med Sci. 12:538–543. 2015. View Article : Google Scholar : PubMed/NCBI

24 

Cao Y, Wang J, Wei C, Hou Z, Li Y, Zou H, Meng M, Wang W and Jiang L: Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population. Gene. 575:29–33. 2016. View Article : Google Scholar : PubMed/NCBI

25 

Ta-Shma A, El-lahham N, Edvardson S, Stepensky P, Nir A, Perles Z, Gavri S, Golender J, Yaakobi-Simhayoff N, Shaag A, et al: Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation. J Med Genet. 51:268–270. 2014. View Article : Google Scholar : PubMed/NCBI

26 

Zhao L, Ni SH, Liu XY, Wei D, Yuan F, Xu L, Xin Li, Li RG, Qu XK, Xu YJ, et al: Prevalence and spectrum of Nkx2.6 mutations in patients with congenital heart disease. Eur J Med Genet. 57:579–586. 2014. View Article : Google Scholar : PubMed/NCBI

27 

Wang J, Mao JH, Ding KK, Xu WJ, Liu XY, Qiu XB, Li RG, Qu XK, Xu YJ, Huang RT, et al: A novel NKX2.6 mutation associated with congenital ventricular septal defect. Pediatr Cardiol. 36:646–656. 2015. View Article : Google Scholar : PubMed/NCBI

28 

Xiang R, Fan LL, Huang H, Cao BB, Li XP, Peng DQ and Xia K: A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis. Gene. 534:320–323. 2014. View Article : Google Scholar : PubMed/NCBI

29 

Han H, Chen Y, Liu G, Han Z, Zhao Z and Tang Y: GATA4 transgenic mice as an in vivo model of congenital heart disease. Int J Mol Med. 35:1545–1553. 2015. View Article : Google Scholar : PubMed/NCBI

30 

Chen J, Qi B, Zhao J, Liu W, Duan R and Zhang M: A novel mutation of GATA4 (K300T) associated with familial atrial septal defect. Gene. 575:473–477. 2016. View Article : Google Scholar : PubMed/NCBI

31 

Huang RT, Xue S, Xu YJ, Zhou M and Yang YQ: Somatic GATA5 mutations in sporadic tetralogy of Fallot. Int J Mol Med. 33:1227–1235. 2014.PubMed/NCBI

32 

Shi LM, Tao JW, Qiu XB, Wang J, Yuan F, Xu L, Liu H, Li RG, Xu YJ, Wang Q, et al: GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve. Int J Mol Med. 33:1219–1226. 2014. View Article : Google Scholar : PubMed/NCBI

33 

Huang RT, Xue S, Xu YJ and Yang YQ: Somatic mutations in the GATA6 gene underlie sporadic tetralogy of Fallot. Int J Mol Med. 31:51–58. 2013.PubMed/NCBI

34 

Wang X, Ji W, Wang J, Zhao P, Guo Y, Xu R, Chen S and Sun K: Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects. Mol Med Rep. 10:743–748. 2014. View Article : Google Scholar : PubMed/NCBI

35 

Wei D, Gong XH, Qiu G, Wang J and Yang YQ: Novel PITX2c loss-of-function mutations associated with complex congenital heart disease. Int J Mol Med. 33:1201–1208. 2014.PubMed/NCBI

36 

Sun YM, Wang J, Qiu XB, Yuan F, Xu YJ, Li RG, Qu XK, Huang RT, Xue S and Yang YQ: PITX2 loss-of-function mutation contributes to tetralogy of Fallot. Gene. 577:258–264. 2016. View Article : Google Scholar : PubMed/NCBI

37 

Lu CX, Gong HR, Liu XY, Wang J, Zhao CM, Huang RT, Xue S and Yang YQ: A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot. Int J Mol Med. 37:445–451. 2016. View Article : Google Scholar : PubMed/NCBI

38 

Sun YM, Wang J, Qiu XB, Yuan F, Li RG, Xu YJ, Qu XK, Shi HY, Hou XM, Huang RT, et al: A HAND2 loss-of-function mutation causes familial ventricular septal defect and pulmonary stenosis. G3 (Bethesda). 6:987–992. 2016. View Article : Google Scholar : PubMed/NCBI

39 

Baban A, Postma AV, Marini M, Trocchio G, Santilli A, Pelegrini M, Sirleto P, Lerone M, Albanese SB, Barnett P, et al: Identification of TBX5 mutations in a series of 94 patients with tetralogy of Fallot. Am J Med Genet A. 164A:1–3107. 2014.PubMed/NCBI

40 

Al-Qattan MM and Al-Shaar H Abou: Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications. Gene. 560:129–136. 2015. View Article : Google Scholar : PubMed/NCBI

41 

Pan Y, Geng R, Zhou N, Zheng GF, Zhao H, Wang J, Zhao CM, Qiu XB, Yang YQ and Liu XY: TBX20 loss-of-function mutation contributes to double outlet right ventricle. Int J Mol Med. 35:1058–1066. 2015. View Article : Google Scholar : PubMed/NCBI

42 

Chen J, Sun F, Fu J and Zhang H: Association of TBX20 gene polymorphism with congenital heart disease in Han Chinese neonates. Pediatr Cardiol. 36:737–742. 2015. View Article : Google Scholar : PubMed/NCBI

43 

McCulley DJ and Black BL: Transcription factor pathways and congenital heart disease. Curr Top Dev Biol. 100:253–277. 2012. View Article : Google Scholar : PubMed/NCBI

44 

Fahed AC, Gelb BD, Seidman JG and Seidman CE: Genetics of congenital heart disease: The glass half empty. Circ Res. 112:707–720. 2013. View Article : Google Scholar : PubMed/NCBI

45 

Greulich F, Rudat C and Kispert A: Mechanisms of T-box gene function in the developing heart. Cardiovasc Res. 91:212–222. 2011. View Article : Google Scholar : PubMed/NCBI

46 

Gao S, Li X and Amendt BA: Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome. Curr Allergy Asthma Rep. 13:613–621. 2013. View Article : Google Scholar : PubMed/NCBI

47 

Zhang Z and Baldini A: In vivo response to high-resolution variation of Tbx1 mRNA dosage. Hum Mol Genet. 17:150–157. 2008. View Article : Google Scholar : PubMed/NCBI

48 

Vitelli F, Huynh T and Baldini A: Gain of function of Tbx1 affects pharyngeal and heart development in the mouse. Genesis. 47:188–195. 2009. View Article : Google Scholar : PubMed/NCBI

49 

Liao J, Kochilas L, Nowotschin S, Arnold JS, Aggarwal VS, Epstein JA, Brown MC, Adams J and Morrow BE: Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum Mol Genet. 13:1577–1585. 2004. View Article : Google Scholar : PubMed/NCBI

50 

Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland HF, Scambler PJ, et al: Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature. 410:97–101. 2001. View Article : Google Scholar : PubMed/NCBI

51 

Jerome LA and Papaioannou VE: DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet. 27:286–291. 2001. View Article : Google Scholar : PubMed/NCBI

52 

Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, Xavier RJ, Demay MB, Russell RG, Factor S, et al: TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell. 104:619–629. 2001. View Article : Google Scholar : PubMed/NCBI

53 

Gong W, Gottlieb S, Collins J, Blescia A, Dietz H, Goldmuntz E, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA and Budarf ML: Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J Med Genet. 38:E452001. View Article : Google Scholar : PubMed/NCBI

54 

Griffin HR, Töpf A, Glen E, Zweier C, Stuart AG, Parsons J, Peart I, Deanfield J, O'Sullivan J, Rauch A, et al: Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants. Heart. 96:1651–1655. 2010. View Article : Google Scholar : PubMed/NCBI

55 

Xu YJ, Chen S, Zhang J, Fang SH, Guo QQ, Wang J, Fu QH, Li F, Xu R and Sun K: Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion. BMC Med Genet. 15:782014. View Article : Google Scholar : PubMed/NCBI

56 

Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, et al: Role of TBX1 in human del22q11.2 syndrome. Lancet. 362:1366–1373. 2003. View Article : Google Scholar : PubMed/NCBI

57 

Paylor R, Glaser B, Mupo A, Ataliotis P, Spencer C, Sobotka A, Sparks C, Choi CH, Oghalai J, Curran S, et al: Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome. Proc Natl Acad Sci USA. 103:pp. 7729–7734. 2006; View Article : Google Scholar : PubMed/NCBI

58 

Torres-Juan L, Rosell J, Morla M, Vidal-Pou C, Garcia-Algas F, de la Fuente MA, Juan M, Tuban A, Bachiller D, Bemues M, et al: Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: A new susceptibility factor for mental retardation. Eur J Hum Genet. 15:658–663. 2007. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Zhang M, Li FX, Liu XY, Hou JY, Ni SH, Wang J, Zhao CM, Zhang W, Kong Y, Huang RT, Huang RT, et al: TBX1 loss‑of‑function mutation contributes to congenital conotruncal defects. Exp Ther Med 15: 447-453, 2018.
APA
Zhang, M., Li, F., Liu, X., Hou, J., Ni, S., Wang, J. ... Yang, Y. (2018). TBX1 loss‑of‑function mutation contributes to congenital conotruncal defects. Experimental and Therapeutic Medicine, 15, 447-453. https://doi.org/10.3892/etm.2017.5362
MLA
Zhang, M., Li, F., Liu, X., Hou, J., Ni, S., Wang, J., Zhao, C., Zhang, W., Kong, Y., Huang, R., Xue, S., Yang, Y."TBX1 loss‑of‑function mutation contributes to congenital conotruncal defects". Experimental and Therapeutic Medicine 15.1 (2018): 447-453.
Chicago
Zhang, M., Li, F., Liu, X., Hou, J., Ni, S., Wang, J., Zhao, C., Zhang, W., Kong, Y., Huang, R., Xue, S., Yang, Y."TBX1 loss‑of‑function mutation contributes to congenital conotruncal defects". Experimental and Therapeutic Medicine 15, no. 1 (2018): 447-453. https://doi.org/10.3892/etm.2017.5362
Copy and paste a formatted citation
x
Spandidos Publications style
Zhang M, Li FX, Liu XY, Hou JY, Ni SH, Wang J, Zhao CM, Zhang W, Kong Y, Huang RT, Huang RT, et al: TBX1 loss‑of‑function mutation contributes to congenital conotruncal defects. Exp Ther Med 15: 447-453, 2018.
APA
Zhang, M., Li, F., Liu, X., Hou, J., Ni, S., Wang, J. ... Yang, Y. (2018). TBX1 loss‑of‑function mutation contributes to congenital conotruncal defects. Experimental and Therapeutic Medicine, 15, 447-453. https://doi.org/10.3892/etm.2017.5362
MLA
Zhang, M., Li, F., Liu, X., Hou, J., Ni, S., Wang, J., Zhao, C., Zhang, W., Kong, Y., Huang, R., Xue, S., Yang, Y."TBX1 loss‑of‑function mutation contributes to congenital conotruncal defects". Experimental and Therapeutic Medicine 15.1 (2018): 447-453.
Chicago
Zhang, M., Li, F., Liu, X., Hou, J., Ni, S., Wang, J., Zhao, C., Zhang, W., Kong, Y., Huang, R., Xue, S., Yang, Y."TBX1 loss‑of‑function mutation contributes to congenital conotruncal defects". Experimental and Therapeutic Medicine 15, no. 1 (2018): 447-453. https://doi.org/10.3892/etm.2017.5362
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team