Application of next generation sequencing for the diagnosis of congenital hearing loss / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To identify genetic mutations among patients with hearing loss but without common GJB2, SLC26A4, 12 SrRNA mutations.@*METHODS@#Thirty-three patients were subjected to next-generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing.@*RESULTS@#Four patients were found to harbor previously known pathogenic variations, and four were found to carry suspicious pathogenic variations, which yielded a detection rate of 24.2%.@*CONCLUSION@#NGS can improve the detection rate for mutations underlying congenital hearing loss and improve the efficiency and accuracy of the diagnosis.