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Article

Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree.

International journal of pediatric otorhinolaryngology - 1 Jan 2018

Kooshavar Daniz, Razipour Masoumeh, Movasat Morteza, Keramatipour Mohammad

Abstract excerpt

BACKGROUND: Usher syndrome (USH) is characterized by congenital hearing loss and retinitis pigmentosa (RP) with a later onset. It is an autosomal recessive trait with clinical and genetic heterogeneity which makes the molecular diagnosis much difficult. In this study, we introduce a pedigree with two affected members with USH type 1 and represent a cost and time effective approach for genetic diagnosis of USH as...

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PMID: 29287847
DOI: 10.1016/j.ijporl.2017.10.022

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