Early truncation of the N-terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype.

Yanfang MiDanhua LiuBeiping ZengYongan TianHui ZhangBei ChenJuanli ZhangHong XueWenxue TangYulin ZhaoHongen Xu

Published in: Molecular genetics & genomic medicine (2020)

This report expands the mutational spectrum of the EYA4 gene and highlights the fact that more data are needed to elucidate the complex genotype-phenotype correlation of EYA4 mutations.

Keyphrases

hearing loss
copy number
genome wide
genome wide identification
left ventricular
electronic health record
dna methylation
gene expression