A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family.

Bingxin ZhouLili YuYan WangWenjing ShangYi XieXiong WangFengchan Han

Published in: BMC medical genetics (2020)

The TRIOBP c.1342C > T (p.Arg448*) variant is predicted to disrupt TRIOBP-5 and TRIOBP-4, which may lead to the congenital deafness. The results will broaden the spectrum of pathogenic variants in TRIOBP gene. The characteristics of deafness in the family imply that marriage between close relatives should be avoided.

Keyphrases

copy number
genome wide
genome wide identification
gene expression
transcription factor