Identifications of Novel Mutants On Myo7a in a Family with Non-Syndromic Hereditary Deafness
SUN Yi
GE Yutong
LIU Xiaoli
SUN Shasha
HAN Qingya
CHEN Yunzhi
Abstract：Objective To identify deafness-causing mutations in two patients with non-syndromic hereditary hearing loss in the same family.Methods Two patients with sensorineural hearing loss seen at the Shandong Rehabilitation Research Center(Shandong Rehabilitation Hospital)on June 21,2022 and their family members received hearing,visual acuity and imaging examinations,and their whole-exome sequencing was analyzed.Results Sequencing of the MYO7A gene revealed two mutation sites,i.e.c.397-398insC and c.250A>C,respectively,both of which were newly discovered mutation sites based on the deafness gene variation database( to the mutation guidelines released by the American College of Medical Genetics and Genomics,c.397-398insC is pathogenic and c.250A>C is likely pathogenic.Sanger sequencing analysis verified that c.397-398insC originated from the father,and c.250A>C from the mother.Hearing test results of the proband and his younger brother were consistent with profound sensorineural loss.Conclusion The newly discovered 2 pathogenic compound heterozygous mutations on the MYO7A gene add to the diagnostic basis for autosomal recessive non-syndromic hearing loss caused by MYO7A gene variations,enriching the MYO7A gene mutation spectrum.Genetic counseling for high-risk families with gene mutation carriers is helpful to reduce occurrence of birth defects including hearing impairment.
Keywords：MYO7A genehereditary hearing lossgene sequencingmutation detection
Publication Date：2024-12-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 961-965 )