Identification of MYO6 copy number variation associated with cochlear aplasia by targeted sequencing

Identification of MYO6 copy number variation associated with cochlear aplasia by targeted sequencing:



Publication date: Available online 16 October 2019

Source: International Journal of Pediatric Otorhinolaryngology

Author(s): Sun Lianhua, Wang Xiaowen, Hou Shule, Liang Min, Yang Jun

Abstract

Copy number variation is an extensively studied cause of hereditary diseases. However, its role in hereditary sensorineural deafness has been rarely reported. Using targeted sequencing, SNP array and qPCR, we found a novel 622.2 kb duplication of 6q14.1 in a patient with congenital sensorineural hearing loss and cochlear aplasia. The duplication included MYO6 and IMPG1 genes. FISH study confirmed that this duplication was inherited from the patient's mosaic mother.