Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family-Reference-Cited by-同舟云学术

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family

Published:2017-02-21 Issue:1 Volume:12 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Chow Yock-Ping,Abdul Murad Nor Azian,Mohd Rani Zamzureena,Khoo Jia-Shiun,Chong Pei-Sin,Wu Loo-Ling,Jamal Rahman

Funder

Universiti Kebangsaan Malaysia

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-017-0575-7.pdf

Reference52 articles.

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2. Yan D, Tekin M, Blanton SH, Liu XZ. Next-generation sequencing in genetic hearing loss. Genet Test Mol Biomarkers. 2013;17(8):581–7.

3. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet. 1997;17(4):411–22.

4. Kopp P. Mutations in the Pendred Syndrome (PDS/SLC26A) gene: an increasingly complex phenotypic spectrum from goiter to thyroid hypoplasia. J Clin Endocrinol Metab. 2014;99(1):67–9.

5. O’Mahoney CF, Luxon LM, Chew SL, Wass JL. When the triad of congenital hearing loss, goitre and perchlorate positive is not Pendred syndrome. J Audiol Med. 2016;5(3):157–65.

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