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Article

Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing.

International journal of pediatric otorhinolaryngology - 1 Jan 2018

Jia Ying, Li Xiaoge, Yang Dong, Xu Yi, Guo Ying, Li Xin

Abstract excerpt

The current study aims to identify the pathogenic sites in a core pedigree of Usher syndrome (USH). A core pedigree of USH was analyzed by whole exome sequencing (WES). Mutations were verified by polymerase chain reaction (PCR) amplification and Sanger sequencing. Two pathogenic variations (c.849+2T>C and c.5994G>A) in MYO7A were successfully identified and individually separated from parents. One variant...

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PMID: 29287864
DOI: 10.1016/j.ijporl.2017.11.020

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