A New Mutation in Fgfr1 Gene (P.M771i) With No Pathogenic Effect On Hearing Loss Found by Whole Exome Sequencing in an Iranian Family

Abstract

Objectives: Hearing loss, the second most frequent sensorineural impairment, could be associated with missense mutations in several genes involved in the development of hearing parts. The receptor tyrosine kinase fibroblast growth factor receptor 1 (FGFR1) is known to be expressed in the inner ear and plays an important role in the formation of auditory-sensory epithelium. There have been some reports of FGFR1 gene mutations causing hearing loss. Using Whole Exome Sequencing (WES), we identified a novel mutation in the FGFR1 gene in a 30-year-old Iranian woman. 1.2. Material and Methods: Whole Exome Sequencing (WES) was performed on a 30-year-old woman, followed by sanger sequencing to check for the new mutation in her parents. PolyPhen-2 and Mupro in silico studies were performed to identify probable changes in wild-type and mutant structures.