Results of Whole-Exome Sequencing in 37 Deaf Patients with Negative Genetic Screening in Guizhou
YUE Fengjuan
HAN Wei
ZHANG Yuan
CAO Zuwei
Abstract：Objective To assess the value of whole-exome sequencing(WES)in the etiological diagnosis of deafness in Guizhou.Methods Data of 37 patients with permanent hearing impairment who visited the Center for Rehabilitative Auditory Research of Guizhou Provincial People's Hospital from January 2022 to April 2023 and underwent whole exome sequencing were retrospectively analyzed.Results All but 1 patient(97.30%)were found to carry at least one variant,involving single heterozygous mutations with recessive inheritance and unclear etiology in 2 cases,and compound heterozygous or homozygous mutations in the remaining 34.According to the ACMG guidelines,16 of the 55 variants found(29.09%)were pathogenic,15(27.27%)were likely pathogenic and 24(43.64%)were of uncertain significance.Additionally,28 of the variants(52.73%)had not been previously reported.Conclusion Hotspot mutations in Guizhou appear to be different from other areas.WES plays an important role in etiological diagnosis of deafness in Guizhou.Deafness genes can be complex and diversed in Guizhou,with a large number of novel variants.Further basic and clinical research is needed to clarify their pathogenicity.
Keywords：deafnessgenetic screeningwhole-exome sequencing
Publication Date：2025-02-27
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 65-68 )