Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient

Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient

Usher syndrome includes a group of genetically and clinically heterogeneous autosomal recessive diseases, such as retinitis pigmentosa (RP) and sensorineural hearing loss. Usher syndrome type I (USHI) is characterized by profound hearing impairment beginning at birth, vestibular dysfunction, and uni...

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Bibliographic Details
Main Authors: Lianmei Zhang, Jingliang Cheng, Qi Zhou, Md. Asaduzzaman Khan, Jiewen Fu, Chengxia Duan, Suan Sun, Hongbin Lv, Junjiang Fu
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-04-01
Series:Frontiers in Genetics
Subjects:
Usher syndrome type ID
CDH23 gene
missense mutation
targeted next-generation sequencing
genotype/phenotype correlation
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00422/full

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