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

ABSTRACT:

Background

The autosomal recessive non-syndromic deafness DFNB28 is characterized by prelingual sensorineural hearing loss. The disease is related with mutations in TRIOBP (Trio- and F-actin-Binding Protein) gene, which has three transcripts referred to as TRIOBP-5, TRIOBP - 4 and TRIOBP-1. Among them, TRIOBP-5/- 4 are expressed in the inner ears and crucial for maintaining the structure and function of the stereocilia.

Methods

The proband is a 26-year-old Chinese female. She and her younger brother have being suffered from severe deafness since birth, whereas her parents, who are cousins, have normal communication ability. Hearing impairment of the two siblings was determined by pure tone audiometry. Whole Exome Sequencing (WES) was performed on the genomic DNA of the proba

SUBMITTER: Zhou B 

PROVIDER: S-EPMC7268695 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature