DIAPH1基因的一个新的换框突变导致一个中国家族常染色体显性非综合征性听力损失：DIAPH1基因突变导致听力损失

IF 2.6 3区生物学 Q2 GENETICS & HEREDITY

Gene Pub Date : 2024-11-13 DOI:10.1016/j.gene.2024.149088

Qi Feng , Lu Jiang , Shuai Zhang , Chufeng He , Lingyun Mei , Yalan Liu

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引用次数: 0

摘要

目的本研究报告了一种与非综合征性听力损失相关的新型杂合子、可能是截短的diaphanous homolog 1（DIAPH1）基因突变：家族成员接受了听力和影像学评估、全外显子组测序（WES）和桑格测序：结果：所有五名患者均出现感音神经性听力损失，严重程度从轻度到重度不等。所有患者均无前庭不适症状，血常规检查显示血小板计数正常。全外显子组测序（WES）发现，DIAPH1基因第26外显子存在一个新的换帧变异，即c.3555delA（p.Gln1185Hisfs*3）。该变异与该家族的听力受损表型存在共分离现象。收集到的数据支持美国医学遗传学和基因组学学院指南将c.3555delA列为遗传性听力损失的遗传病因：我们在 DIAPH1 基因中发现了一个新的致病突变，从而扩大了与听力损失相关的突变谱。

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A novel frameshift mutation in the DIAPH1 gene causes a Chinese family autosomal dominant nonsyndromic hearing loss

Objective

This study reports a novel heterozygous, likely truncating mutation in the diaphanous homolog 1 (DIAPH1) gene associated with non-syndromic hearing loss.

Methods

Family members underwent audiological and imaging assessments, whole-exome sequencing (WES), and Sanger sequencing.

Results

Sensorineural hearing loss was observed in all five individuals, with severity ranging from mild to severe. None of the affected patients reported vestibular complaints, and routine blood tests showed normal platelet counts. Whole-exome sequencing (WES) revealed a novel frameshift variation, c.3555delA (p.Gln1185Hisfs*3), in exon 26 of the DIAPH1 gene. This variation co-segregated with the hearing-impaired phenotype in the family. The data collected support the classification of c.3555delA as a genetic etiology of hereditary hearing loss according to the American College of Medical Genetics and Genomics guidelines.

Conclusion

We identified a novel pathogenic mutation in the DIAPH1 gene, thereby expanding the mutation spectrum associated with hearing loss.

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来源期刊

Gene 生物-遗传学

CiteScore

6.10

自引率

2.90%

发文量

718

审稿时长

42 days

期刊介绍： Gene publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses.