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Prevalence and clinical features of hearing loss caused by EYA4 variants.EYA4 变异引起的听力损失的患病率和临床特征。
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Sensorineural hearing loss and mild cardiac phenotype caused by an mutation.一种突变导致的感音神经性听力损失和轻度心脏表型。
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EYA4基因的眼同源区域（eyaHR）中的一个4碱基对插入，在与DFNA10相关的一个匈牙利家族中导致听力障碍。

A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10.

作者信息

Pfister Markus, Tóth Tímea, Thiele Holger, Haack Birgit, Blin Nikolaus, Zenner Hans-Peter, Sziklai István, Nürnberg Peter, Kupka Susan

机构信息

Department of Otolaryngology, University of Tübingen, Tübingen, Germany.

出版信息

Mol Med. 2002 Oct;8(10):607-11.

PMID:12477971
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2039947/
Abstract

BACKGROUND

Hereditary hearing impairment (HHI) is a heterogeneous class of disorders that shows various patterns of inheritance and involves a multitude of different genes. Mutations in the EYA4 gene are responsible for postlingual, progressive, autosomal dominant hearing loss at the DFNA10 locus. EYA4 is orthologous to the Drosophila gene eya ("eyes absent"), a key regulator of eye formation. EYA4 plays an important role in several developmental processes.

MATERIAL AND METHODS

Here we report a Hungarian family displaying sensorineural, progressive hearing impairment. The family comprising four generations with 11 affected and 8 unaffected members was subjected to genome-wide linkage analysis and candidate gene sequencing.

RESULTS

By linkage analysis, the chromosomal region 6q22.3 was shown to segregate with the disease. Mutation analysis of the EYA4 gene, which maps to 6q22.3, revealed an insertion of 4 bp (1558insTTTG) in all affected family members. This insertion creates a frameshift and results in a stop codon at position 379. Hence, nearly the complete "eya homologous region" (eyaHR), which is essential for the protein function, would be deleted in the mutant EYA4 protein if the transcription were found to be stable.

CONCLUSIONS

This family is the third one linked to DFNA10 and revealing a mutation in the EYA4 gene. In all three families, the mutations are localized in different regions of the eyaHR, suggesting that this protein contains several functional subregions with different tissue-specific importance.

摘要

背景

遗传性听力障碍（HHI）是一类具有异质性的疾病，呈现出多种遗传模式，涉及众多不同基因。EYA4基因的突变导致DFNA10位点的语后、进行性、常染色体显性听力丧失。EYA4与果蝇的eya基因（“无眼”）同源，eya基因是眼睛形成的关键调节因子。EYA4在多个发育过程中发挥重要作用。

材料与方法

在此，我们报告一个表现为感音神经性、进行性听力障碍的匈牙利家族。该家族包括四代，有11名患者和8名未受影响的成员，对其进行了全基因组连锁分析和候选基因测序。

结果

通过连锁分析，显示染色体区域6q22.3与该疾病共分离。对定位于6q22.3的EYA4基因进行突变分析，发现在所有受影响的家族成员中存在4个碱基对的插入（1558insTTTG）。这种插入导致移码，并在第379位产生一个终止密码子。因此，如果转录稳定，突变的EYA4蛋白中几乎整个对蛋白质功能至关重要的“eya同源区域”（eyaHR）将被删除。

结论

这个家族是与DFNA10连锁并揭示EYA4基因发生突变的第三个家族。在所有这三个家族中，突变位于eyaHR的不同区域，表明该蛋白包含几个具有不同组织特异性重要性的功能亚区域。