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

Nelson ChenHane LeeAngela H KimPei-Kang LiuEugene Yu-Chuan KangYun-Ju TsengGo Hun SeoRin KhangLaura LiuKuan-Jen ChenWe-Chi WuMeng-Chang HsiaoNan-Kai Wang

Published in: BMC ophthalmology (2022)

We report a novel homozygous PCDH15 pathogenic variant expected to lead to nonsense-mediated decay (NMD) of PCDH15 mRNA. The patient exhibits a loss of function with USH1F, experiencing congenital hearing loss and syndromic RP.

Keyphrases

case report
hearing loss
intellectual disability
autism spectrum disorder