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
Biomedical Reports
Join Editorial Board Propose a Special Issue
Print ISSN: 2049-9434 Online ISSN: 2049-9442
Journal Cover
May-2020 Volume 12 Issue 5

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
May-2020 Volume 12 Issue 5

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

A novel familial mutation associated with Treacher Collins syndrome: A case report

  • Authors:
    • Elena Papageorgiou
    • Ioannis Papoulidis
    • Apostolos Zavlanos
    • Evaggelos Papanikolaou
    • Emmanouil Manolakos
    • Stiliani Fidani
  • View Affiliations / Copyright

    Affiliations: Access to Genome, Clinical Laboratory Genetics, 55134 Thessaloniki, Greece, 1st Department of Obstetrics and Gynecology, Papageorgiou Hospital, 56403 Thessaloniki, Greece, 3rd Department of Obstetrics and Gynecology, Ippokratio Hospital, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece, Department for Special Needs, Aristotle University of Thessaloniki Achepa Hospital, 54636 Thessaloniki, Greece
  • Pages: 285-289
    |
    Published online on: February 28, 2020
       https://doi.org/10.3892/br.2020.1284
  • 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

Treacher Collins syndrome (TCS) is a type of mandibulofacial dysostosis with incomplete penetrance and high intra‑ and interfamilial clinical heterogeneity, and it is associated with mutations of treacle ribosome biogenesis factor 1 (TCOF1), and RNA polymerase I and III subunit (POLR1)C and POLR1D genes. In the present case report, a patient with TCS with auricle dysplasia and hearing loss accompanied with intellectual disability is described. Sequence analysis was performed on blood samples from the patient and his father via oligonucleotide‑based target capture, followed by next‑generation sequencing. Alignment and variant calls were generated using the Burrows‑Wheeler Aligner and Genome Analysis Toolkit, followed by bioinformatics analysis of the detected variants. A novel heterozygous mutation, c.911C>T (p.Ser304Leu), was detected in the TCOF1 gene, which was inherited from the father. The father of the patient only suffered from hearing loss. The present report is the first to identify an association between phenotypic variability and TCOF1 gene mutations and thus contributes to our understanding of the association between the genotype and phenotype in patients with TCS and offers clinically relevant information for diagnosis of the syndrome.
View Figures

Figure 1

Figure 2

Figure 3

View References

1 

Caluseriu O, Lowry BR, McLeod R, Lamont R, Parboosingh JS, Bernier FP and Innes AM: The hutterite variant of treacher collins syndrome: A 28-year-old story solved. Am J Med Genet. 161A:2855–2859. 2013.PubMed/NCBI View Article : Google Scholar

2 

Thomson A: Notice of several cases of malformation of the external ear, together with experiments on the state of hearing in such persons. Mon J Med Sci. 1:420–425. 1846.

3 

Berry GA: Note on a congenital defect (?coloboma) of the lower lid. R Lond Ophthal Hosp Rep. 12:255–257. 1889.

4 

Dixon MJ: Treacher collins syndrome. Hum Mol Genet. 5:1391–1393. 1996.PubMed/NCBI View Article : Google Scholar

5 

Dixon MJ, Marres HA, Edwards SJ, Dixon J and Cremers CW: Treacher Collins syndrome: Correlation between clinical and genetic linkage studies. Clin Dysmorphol. 3:96–103. 1994.PubMed/NCBI

6 

Dixon MJ, Read AP, Donnai D, Colley A, Dixon J and Williamson R: The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. Am J Hum Genet. 49:17–22. 1991.PubMed/NCBI

7 

Katsanis SH and Jabs EW: Treacher Collins Syndrome. 2004 Jul 20 (updated 2012 Aug 30). Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Ledbetter N, Mefford HC, Smith RJ and Stephens K (eds): GeneReviews© (Internet). University of Washington, Seattle, WA, 1993.2017.

8 

Gonzales B, Henning D, So RB, Dixon J, Dixon MJ and Valdez BC: The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. Hum Mol Genet. 14:2035–2043. 2005.PubMed/NCBI View Article : Google Scholar

9 

Splendore A, Jabs EW, Félix TM and Passos-Bueno MR: Parental origin of mutations in sporadic cases of Treacher Collins syndrome. Eur J Hum Genet. 11:718–722. 2003.PubMed/NCBI View Article : Google Scholar

10 

Splendore A, Fanganiello RD, Masotti C, Morganti LS and Passos-Bueno MR: TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature. Hum Mutat. 25:429–434. 2005.PubMed/NCBI View Article : Google Scholar

11 

Masotti C, Armelin-Correa LM, Splendore A, Lin CJ, Barbosa A, Sogayar MC and Passos-Bueno MR: A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction. Gene. 359:44–52. 2005.PubMed/NCBI View Article : Google Scholar

12 

Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D and Passos-Bueno MR: High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat. 16:315–322. 2000.PubMed/NCBI View Article : Google Scholar

13 

Wise CA, Chiang LC, Paznekas WA, Sharma M, Musy MM, Ashley JA, Lovett M and Jabs EW: TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region. Proc Natl Acad Sci USA. 94:3110–3115. 1997.PubMed/NCBI View Article : Google Scholar

14 

Teber OA, Gillessen-Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, et al: Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet. 12:879–890. 2004.PubMed/NCBI View Article : Google Scholar

15 

Hayano T, Yanagida M, Yamauchi Y, Shinkawa T, Isobe T and Takahashi N: Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome. J Biol Chem. 278:34309–34319. 2003.PubMed/NCBI View Article : Google Scholar

16 

Trainor PA, Dixon J and Dixon MJ: Treacher Collins syndrome: Etiology, pathogenesis and prevention. Eur J Hum Genet. 17:275–283. 2009.PubMed/NCBI View Article : Google Scholar

17 

Jones NC, Lynn ML, Gaudenz K, Sakai D, Aoto K, Rey JP, Glynn EF, Ellington L, Du C, Dixon J, et al: Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nat Med. 14:125–133. 2008.PubMed/NCBI View Article : Google Scholar

18 

Trainor PA: Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention. Am J Med Genet A. 152A:2984–2994. 2010.PubMed/NCBI View Article : Google Scholar

19 

Huang X and Saint-Jeannet JP: Induction of the neural crest and the opportunities of life on the edge. Dev Biol. 275:1–11. 2004.PubMed/NCBI View Article : Google Scholar

20 

Dixon J, Jones NC, Sandell LL, Jayasinghe SM, Crane J, Rey JP, Dixon MJ and Trainor PA: Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc Natl Acad Sci USA. 103:13403–13408. 2006.PubMed/NCBI View Article : Google Scholar

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Papageorgiou E, Papoulidis I, Zavlanos A, Papanikolaou E, Manolakos E and Fidani S: A novel familial mutation associated with Treacher Collins syndrome: A case report. Biomed Rep 12: 285-289, 2020.
APA
Papageorgiou, E., Papoulidis, I., Zavlanos, A., Papanikolaou, E., Manolakos, E., & Fidani, S. (2020). A novel familial mutation associated with Treacher Collins syndrome: A case report. Biomedical Reports, 12, 285-289. https://doi.org/10.3892/br.2020.1284
MLA
Papageorgiou, E., Papoulidis, I., Zavlanos, A., Papanikolaou, E., Manolakos, E., Fidani, S."A novel familial mutation associated with Treacher Collins syndrome: A case report". Biomedical Reports 12.5 (2020): 285-289.
Chicago
Papageorgiou, E., Papoulidis, I., Zavlanos, A., Papanikolaou, E., Manolakos, E., Fidani, S."A novel familial mutation associated with Treacher Collins syndrome: A case report". Biomedical Reports 12, no. 5 (2020): 285-289. https://doi.org/10.3892/br.2020.1284
Copy and paste a formatted citation
x
Spandidos Publications style
Papageorgiou E, Papoulidis I, Zavlanos A, Papanikolaou E, Manolakos E and Fidani S: A novel familial mutation associated with Treacher Collins syndrome: A case report. Biomed Rep 12: 285-289, 2020.
APA
Papageorgiou, E., Papoulidis, I., Zavlanos, A., Papanikolaou, E., Manolakos, E., & Fidani, S. (2020). A novel familial mutation associated with Treacher Collins syndrome: A case report. Biomedical Reports, 12, 285-289. https://doi.org/10.3892/br.2020.1284
MLA
Papageorgiou, E., Papoulidis, I., Zavlanos, A., Papanikolaou, E., Manolakos, E., Fidani, S."A novel familial mutation associated with Treacher Collins syndrome: A case report". Biomedical Reports 12.5 (2020): 285-289.
Chicago
Papageorgiou, E., Papoulidis, I., Zavlanos, A., Papanikolaou, E., Manolakos, E., Fidani, S."A novel familial mutation associated with Treacher Collins syndrome: A case report". Biomedical Reports 12, no. 5 (2020): 285-289. https://doi.org/10.3892/br.2020.1284
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