Article
Early truncation of the N-terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype.
Molecular genetics & genomic medicine - 1 Jan 2021
Mi Yanfang, Liu Danhua, Zeng Beiping, Tian Yongan, Zhang Hui, Chen Bei, Zhang Juanli, Xue Hong, Tang Wenxue, Zhao Yulin, Xu Hongen
Abstract excerpt
BACKGROUND: Autosomal dominant hearing loss (ADHL) accounts for about 20% of all hereditary non-syndromic HL. Truncating mutations of the EYA4 gene can cause either non-syndromic ADHL or syndromic ADHL with cardiac abnormalities. It has been proposed that truncations of the C-terminal Eya domain lead to non-syndromic HL, whereas early truncations of the N-terminal variable region cause syndromic HL with cardiac...
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