Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa

Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa

Abstract Background Usher syndrome (USH) is an autosomal recessive disorder primarily responsible for deaf-blindness. Patients with subtype Usher syndrome type 1 (USH1) typically experience congenital sensorineural hearing loss, abnormal vestibular function, and retinitis pigmentosa (RP). Here we pr...

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Bibliographic Details
Main Authors: Nelson Chen, Hane Lee, Angela H. Kim, Pei-Kang Liu, Eugene Yu-Chuan Kang, Yun-Ju Tseng, Go Hun Seo, Rin Khang, Laura Liu, Kuan-Jen Chen, We-Chi Wu, Meng-Chang Hsiao, Nan-Kai Wang
Format: Article
Language:English
Published: BMC 2022-11-01
Series:BMC Ophthalmology
Subjects:
Usher syndrome type 1F (USH1F)
PCDH15
Protocadherin-15
Loss of function
Nonsense-mediated decay
Syndromic retinitis pigmentosa
Online Access:https://doi.org/10.1186/s12886-022-02659-6

Internet

https://doi.org/10.1186/s12886-022-02659-6

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