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Novel mutations in the SLC26A4 gene

✍ Scribed by Micol Busi; Alessandro Castiglione; Marina Taddei Masieri; Anna Ravani; Valeria Guaran; Laura Astolfi; Patrizia Trevisi; Alessandra Ferlini; Alessandro Martini

Book ID: 118454422
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 812 KB
Volume: 76
Category: Article
ISSN: 0165-5876
DOI: 10.1016/j.ijporl.2012.05.014

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## Objectives: Mutations in the slc26a4 gene (7q22.3-7q31.1) are considered one of the most common causes of genetic hearing loss. there are two clinical forms related to these mutations: syndromic and non-syndromic deafness. the first one is named pendred syndrome (ps) when deafness is associated

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Pendred syndrome (PDS; OMIM #274600) is an autosomal recessive disorder characterized by bilateral sensorineural hearing loss with inner ear malformations and goiter, although the thyroid symptoms are variable [Reardon et al., 1999]. PDS is estimated to account for 5% of childhood deafness, rising t

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