Article
Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31.
Human molecular genetics - 1 Nov 2015
Mathur Pranav Dinesh, Zou Junhuang, Zheng Tihua, Almishaal Ali, Wang Yong, Chen Qian, Wang Le, Vashist Deepti, Brown Steve, Park Albert, Yang Jun
Abstract excerpt
Usher syndrome (USH) is the most common inherited deaf-blindness with the majority of USH causative genes also involved in nonsyndromic recessive deafness (DFNB). The mechanism underlying this disease variation of USH genes is unclear. Here, we addressed this issue by investigating the DFNB31 gene, whose mutations cause USH2D or DFNB31 depending on their position. We found that the mouse DFNB31 ortholog (Dfnb31)...
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