Clinical and genetic architecture of a large cohort with auditory neuropathy.

IF 3.8 2区生物学 Q2 GENETICS & HEREDITY

Human Genetics Pub Date : 2024-03-01 Epub Date: 2024-03-08 DOI:10.1007/s00439-024-02652-7

Hongyang Wang, Liping Guan, Xiaonan Wu, Jing Guan, Jin Li, Nan Li, Kaili Wu, Ya Gao, Dan Bing, Jianguo Zhang, Lan Lan, Tao Shi, Danyang Li, Wenjia Wang, Linyi Xie, Fen Xiong, Wei Shi, Lijian Zhao, Dayong Wang, Ye Yin, Qiuju Wang

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引用次数: 0

Abstract

Auditory neuropathy (AN) is a unique type of language developmental disorder, with no precise rate of genetic contribution that has been deciphered in a large cohort. In a retrospective cohort of 311 patients with AN, pathogenic and likely pathogenic variants of 23 genes were identified in 98 patients (31.5% in 311 patients), and 14 genes were mutated in two or more patients. Among subgroups of patients with AN, the prevalence of pathogenic and likely pathogenic variants was 54.4% and 56.2% in trios and families, while 22.9% in the cases with proband-only; 45.7% and 25.6% in the infant and non-infant group; and 33.7% and 0% in the bilateral and unilateral AN cases. Most of the OTOF gene (96.6%, 28/29) could only be identified in the infant group, while the AIFM1 gene could only be identified in the non-infant group; other genes such as ATP1A3 and OPA1 were identified in both infant and non-infant groups. In conclusion, genes distribution of AN, with the most common genes being OTOF and AIFM1, is totally different from other sensorineural hearing loss. The subgroups with different onset ages showed different genetic spectrums, so did bilateral and unilateral groups and sporadic and familial or trio groups.

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一大批听觉神经病患者的临床和遗传结构。

听觉神经病（AN）是一种独特的语言发育障碍，目前还没有在一个大的群体中破解出精确的遗传贡献率。在一个由 311 名听觉神经病患者组成的回顾性队列中，有 98 名患者（占 311 名患者的 31.5%）发现了 23 个基因的致病和可能致病变异，有 14 个基因在两名或两名以上患者中发生了突变。在AN患者的亚组中，致病变异和可能致病变异的发生率在三人组和家族中分别为54.4%和56.2%，而在仅有原发性的病例中为22.9%；在婴儿组和非婴儿组中分别为45.7%和25.6%；在双侧和单侧AN病例中分别为33.7%和0%。大多数 OTOF 基因（96.6%，28/29）只能在婴儿组中找到，而 AIFM1 基因只能在非婴儿组中找到；其他基因如 ATP1A3 和 OPA1 在婴儿组和非婴儿组中都能找到。总之，AN 的基因分布与其他感音神经性听力损失完全不同，其中最常见的基因是 OTOF 和 AIFM1。不同发病年龄的亚组表现出不同的基因谱，双侧组和单侧组、散发性组和家族性组或三人组也表现出不同的基因谱。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Human Genetics 生物-遗传学

CiteScore

10.80

自引率

3.80%

发文量

审稿时长

1 months

期刊介绍： Human Genetics is a monthly journal publishing original and timely articles on all aspects of human genetics. The Journal particularly welcomes articles in the areas of Behavioral genetics, Bioinformatics, Cancer genetics and genomics, Cytogenetics, Developmental genetics, Disease association studies, Dysmorphology, ELSI (ethical, legal and social issues), Evolutionary genetics, Gene expression, Gene structure and organization, Genetics of complex diseases and epistatic interactions, Genetic epidemiology, Genome biology, Genome structure and organization, Genotype-phenotype relationships, Human Genomics, Immunogenetics and genomics, Linkage analysis and genetic mapping, Methods in Statistical Genetics, Molecular diagnostics, Mutation detection and analysis, Neurogenetics, Physical mapping and Population Genetics. Articles reporting animal models relevant to human biology or disease are also welcome. Preference will be given to those articles which address clinically relevant questions or which provide new insights into human biology. Unless reporting entirely novel and unusual aspects of a topic, clinical case reports, cytogenetic case reports, papers on descriptive population genetics, articles dealing with the frequency of polymorphisms or additional mutations within genes in which numerous lesions have already been described, and papers that report meta-analyses of previously published datasets will normally not be accepted. The Journal typically will not consider for publication manuscripts that report merely the isolation, map position, structure, and tissue expression profile of a gene of unknown function unless the gene is of particular interest or is a candidate gene involved in a human trait or disorder.