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
April-2021 Volume 21 Issue 4

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
April-2021 Volume 21 Issue 4

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
Case Report Open Access

A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report

  • Authors:
    • Qi Yang
    • Qiang Zhang
    • Fei Chen
    • Shang Yi
    • Mengting Li
    • Sheng Yi
    • Xingmin Xu
    • Jingsi Luo
  • View Affiliations / Copyright

    Affiliations: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi 530023, P.R. China, Department of Medical Genetics, Southern Medical University, Guangzhou, Guangdong 510800, P.R. China
    Copyright: © Yang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 311
    |
    Published online on: February 1, 2021
       https://doi.org/10.3892/etm.2021.9742
  • 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

Cranioectodermal dysplasia (CED) or Sensenbrenner syndrome is a very rare autosomal‑recessive disease that is characterized by craniofacial, skeletal and ectodermal abnormalities. The proteins encoded by six CED‑associated genes are members of the intraflagelline transport (IFT) system, which serves an essential role in the assembly, maintenance and function of primary cilia. The current study identified compound novel heterozygous IFT122 (NM_052985.3) variants in a male Chinese infant with CED. The latter variant changes the length of the protein and may result in the partial loss‑of‑function of IFT122. With the simultaneous presence of frameshift and stop‑loss variants, the patient manifested typical CED with fine and sparse hair, macrocephaly, dysmorphic facial features and upper limb phocomelia. A number of unusual phenotypic characteristics were additionally observed and included postaxial polydactyly of both hands and feet. The molecular confirmation of CED in this patient expands the CED‑associated variant spectrum of IFT122 in CED, while the manifestation of CED in this patient provides additional clinical information regarding this syndrome. Moreover, the two variants identified in the proband provide a novel perspective into the phenotypes caused by different combinations of variants.
View Figures

Figure 1

Figure 2

View References

1 

Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, et al: C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet. 48:390–395. 2011.PubMed/NCBI View Article : Google Scholar

2 

Bayat A, Kerr B and Douzgou S: DDD Study. The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations. Clin Dysmorphol. 26:247–251. 2017.PubMed/NCBI View Article : Google Scholar

3 

Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, et al: Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet. 89:634–643. 2011.PubMed/NCBI View Article : Google Scholar

4 

Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, et al: Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet Sep. 87:418–423. 2010.PubMed/NCBI View Article : Google Scholar

5 

Girisha KM, Shukla A, Trujillano D, Bhavani GS, Hebbar M, Kadavigere R and Rolfs A: A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. Clin Genet. 90:536–539. 2016.PubMed/NCBI View Article : Google Scholar

6 

Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, et al: Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet. 86:949–956. 2010.PubMed/NCBI View Article : Google Scholar

7 

Prevo B, Scholey JM and Peterman EJ: Intraflagellar transport: Mechanisms of motor action, cooperation, and cargo delivery. FEBS J. 284:2905–2931. 2017.PubMed/NCBI View Article : Google Scholar

8 

Baker K and Beales PL: Making sense of cilia in disease: The human ciliopathies. Am J Med Genet C Semin Med Genet. 151C:281–295. 2009.PubMed/NCBI View Article : Google Scholar

9 

Yuan X, Serra RA and Yang S: Function and regulation of primary cilia and intraflagellar transport proteins in the skeleton. Ann NY Acad Sci. 1335:78–99. 2015.PubMed/NCBI View Article : Google Scholar

10 

Oud MM, Lamers IJ and Arts HH: Ciliopathies: Genetics in Pediatric Medicine. J Pediatr Genet. 6:18–29. 2017.PubMed/NCBI View Article : Google Scholar

11 

Arts H and Knoers N: Cranioectodermal Dysplasia. GeneReviews [Internet]. Adam MP, Ardinger HH and Pagon RA (eds). University of Washington Seattle, WA, 2013.

12 

Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JA, Nevarez L, Nickerson DA, Bamshad M, et al: University of Washington Center for Mendelian Genomics: Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat. 39:152–166. 2018.PubMed/NCBI View Article : Google Scholar

13 

Handa A, Voss U, Hammarsjö A, Grigelioniene G and Nishimura G: Skeletal ciliopathies: A pattern recognition approach. Jpn J Radiol. 38:193–206. 2020.PubMed/NCBI View Article : Google Scholar

14 

Lin AE, Traum AZ, Sahai I, Keppler-Noreuil K, Kukolich MK, Adam MP, Westra SJ and Arts HH: Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients. Am J Med Genet A. 161A:2762–2776. 2013.PubMed/NCBI View Article : Google Scholar

15 

Walczak-Sztulpa J, Posmyk R, Bukowska-Olech EM, Wawrocka A, Jamsheer A, Oud MM, Schmidts M, Arts HH, Latos-Bielenska A and Wasilewska A: Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease. Orphanet J Rare Dis. 15(36)2020.PubMed/NCBI View Article : Google Scholar

16 

Schmidts M: Clinical genetics and pathobiology of ciliary chondrodysplasias. J Pediatr Genet. 3:46–94. 2014.PubMed/NCBI View Article : Google Scholar

17 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al: ACMG Laboratory Quality Assurance Committee: Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 17:405–424. 2015.PubMed/NCBI View Article : Google Scholar

18 

Silveira KC, Moreno CA and Cavalcanti DP: Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122. Am J Med Genet A. 173:1186–1189. 2017.PubMed/NCBI View Article : Google Scholar

19 

Huber C and Cormier-Daire V: Ciliary disorder of the skeleton. Am J Med Genet C Semin Med Genet. 160C:165–174. 2012.PubMed/NCBI View Article : Google Scholar

20 

Alazami AM, Seidahmed MZ, Alzahrani F, Mohammed AO and Alkuraya FS: Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia. Mol Genet Genomic Med. 2:103–106. 2014.PubMed/NCBI View Article : Google Scholar

21 

Moosa S, Obregon MG, Altmüller J, Thiele H, Nürnberg P, Fano V and Wollnik B: Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum. Am J Med Genet A. 170A:1295–1301. 2016.PubMed/NCBI View Article : Google Scholar

22 

Cardenas-Rodriguez M and Badano JL: Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies. Am J Med Genet C Semin Med Genet. 151C:263–280. 2009.PubMed/NCBI View Article : Google Scholar

23 

Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B and Bonnen PE: WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype. Am J Med Genet A. 158A:2917–2924. 2012.PubMed/NCBI View Article : Google Scholar

24 

Orlicky S, Tang X, Willems A, Tyers M and Sicheri F: Structural basis for phosphodependent substrate selection and orientation by the SCFCdc4 ubiquitin ligase. Cell. 112:243–256. 2003.PubMed/NCBI View Article : Google Scholar

25 

Tsurusaki Y, Yonezawa R, Furuya M, Nishimura G, Pooh RK, Nakashima M, Saitsu H, Miyake N, Saito S and Matsumoto N: Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss. Clin Genet. 85:592–594. 2014.PubMed/NCBI View Article : Google Scholar

26 

Xu Y, Sun S, Li N, Yu T, Wang X, Wang J and Bao N: Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis. Gene. 641:144–150. 2018.PubMed/NCBI View Article : Google Scholar

27 

Walczak-Sztulpa J, Wawrocka A, Sobierajewicz A, Kuszel L, Zawadzki J, Grenda R, Swiader-Lesniak A, Kocyla-Karczmarewicz B, Wnuk A, Latos-Bielenska A, et al: Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. Am J Med Genet A. 173:1364–1368. 2017.PubMed/NCBI View Article : Google Scholar

28 

Bouldin CM, Gritli-Linde A, Ahn S and Harfe BD: Shh pathway activation is present and required within the vertebrate limb bud apical ectodermal ridge for normal autopod patterning. Proc Natl Acad Sci USA. 107:5489–5494. 2010.PubMed/NCBI View Article : Google Scholar

29 

Tsao CC and Gorovsky MA: Tetrahymena IFT122A is not essential for cilia assembly but plays a role in returning IFT proteins from the ciliary tip to the cell body. J Cell Sci. 121:428–436. 2008.PubMed/NCBI View Article : Google Scholar

30 

Pedersen LB and Rosenbaum JL: Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling. Curr Top Dev Biol. 85:23–61. 2008.PubMed/NCBI View Article : Google Scholar

31 

Qin J, Lin Y, Norman RX, Ko HW and Eggenschwiler JT: Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components. Proc Natl Acad Sci USA. 108:1456–1461. 2011.PubMed/NCBI View Article : Google Scholar

32 

Brooks ER, Islam MT, Anderson KV and Zallen JA: Sonic hedgehog signaling directs patterned cell remodeling during cranial neural tube closure. eLife. 9(e60234)2020.PubMed/NCBI View Article : Google Scholar

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Yang Q, Zhang Q, Chen F, Yi S, Li M, Yi S, Xu X and Luo J: A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report. Exp Ther Med 21: 311, 2021.
APA
Yang, Q., Zhang, Q., Chen, F., Yi, S., Li, M., Yi, S. ... Luo, J. (2021). A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report. Experimental and Therapeutic Medicine, 21, 311. https://doi.org/10.3892/etm.2021.9742
MLA
Yang, Q., Zhang, Q., Chen, F., Yi, S., Li, M., Yi, S., Xu, X., Luo, J."A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report". Experimental and Therapeutic Medicine 21.4 (2021): 311.
Chicago
Yang, Q., Zhang, Q., Chen, F., Yi, S., Li, M., Yi, S., Xu, X., Luo, J."A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report". Experimental and Therapeutic Medicine 21, no. 4 (2021): 311. https://doi.org/10.3892/etm.2021.9742
Copy and paste a formatted citation
x
Spandidos Publications style
Yang Q, Zhang Q, Chen F, Yi S, Li M, Yi S, Xu X and Luo J: A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report. Exp Ther Med 21: 311, 2021.
APA
Yang, Q., Zhang, Q., Chen, F., Yi, S., Li, M., Yi, S. ... Luo, J. (2021). A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report. Experimental and Therapeutic Medicine, 21, 311. https://doi.org/10.3892/etm.2021.9742
MLA
Yang, Q., Zhang, Q., Chen, F., Yi, S., Li, M., Yi, S., Xu, X., Luo, J."A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report". Experimental and Therapeutic Medicine 21.4 (2021): 311.
Chicago
Yang, Q., Zhang, Q., Chen, F., Yi, S., Li, M., Yi, S., Xu, X., Luo, J."A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report". Experimental and Therapeutic Medicine 21, no. 4 (2021): 311. https://doi.org/10.3892/etm.2021.9742
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