High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population.

Neural Plasticity
Hongyang WangQiuju Wang

Abstract

To decipher the genotype-phenotype correlation of auditory neuropathy (AN) caused by AIFM1 variations, as well as the phenotype progression of these patients, exploring the potential molecular pathogenic mechanism of AN. A total of 36 families of individuals with AN (50 cases) with AIFM1 variations were recruited and identified by Sanger sequencing or next-generation sequencing; the participants included 30 patients from 16 reported families and 20 new cases. We found that AIFM1-positive cases accounted for 18.6% of late-onset AN cases. Of the 50 AN patients with AIFM1 variants, 45 were male and 5 were female. The hotspot variation of this gene was p.Leu344Phe, accounting for 36.1%. A total of 19 AIFM1 variants were reported in this study, including 7 novel ones. A follow-up study was performed on 30 previously reported AIFM1-positive subjects, 16 follow-up cases (53.3%) were included in this study, and follow-up periods were recorded from 1 to 23 years with average 9.75 ± 9.89 years. There was no hearing threshold increase during the short-term follow-up period (1-10 years), but the low-frequency and high-frequency hearing thresholds showed a significant increase with the prolongation of follow-up time. The speech discriminati...Continue Reading

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Citations

Nov 12, 2020·International Journal of Molecular Sciences·Tian ZhaoTimothy E Shutt
Jun 28, 2021·American Journal of Otolaryngology·Mengtao SongQiuju Wang

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Methods Mentioned

BETA
exome sequencing

Software Mentioned

SIFT
gnomAD
Empower
ExAC
LRT
R
GAMM
SPSS
PolyPhen
MutationTaster

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