A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report

A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report

Abstract Background Usher syndrome (USH) is the most common cause of inherited deaf-blindness. The current study aimed to identify pathogenic variants in a Chinese patient with hearing loss and to report the identification of a novel p.(Phe1583Leufs*10) variant in USH2A, which met the needs of prena...

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Bibliographic Details
Main Authors: Cong Zhou, Yuanyuan Xiao, Hanbing Xie, Shanling Liu, Jing Wang
Format: Article
Language:English
Published: BMC 2021-08-01
Series:BMC Medical Genomics
Subjects:
Hearing loss
USH2A
Variant
Disease-targeted gene panel
Next generation sequencing
Prenatal diagnosis
Online Access:https://doi.org/10.1186/s12920-021-01052-4

Internet

https://doi.org/10.1186/s12920-021-01052-4

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