KIT gene mutation causes deafness and hypopigmentation in Bama miniature pigs.

ABSTRACT: Waardenburg syndrome (WS) is a common syndromic hearing loss disease. A large group of patients affected by WS were found no mutations in the existed gene panel, indicating that there are still potential genes responsible for WS yet to be detected. In our previous study, we established an autosomal-dominant KIT (OMIM# 164920) mutation (c.2418T>A, p.Asp806Glu) pig pedigree which presented congenital bilateral severe sensorineural hearing loss and hypopigmentation, exact the same as human WS. Histological analysis showed nearly normal structures of the organ of Corti, stria vascularis (SV) and spiral neuron ganglions at E85. Scanning electron microscopy (SEM) exhibited that hair cells started to degenerate at E100, and totally gone at P1. Transmission electron microscope (TEM) showed

SUBMITTER: Xu C 

PROVIDER: S-EPMC7540160 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature