两个中国家庭中导致常染色体隐性听力损失的新型 MARVELD2 复合杂合变异。

IF 1.5 4区 医学 Q4 GENETICS & HEREDITY
Xinyu Shi, Xiaozhou Liu, Yanjun Zong, Zhengdong Zhao, Yu Sun
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引用次数: 0

摘要

背景:遗传性听力损失是先天性听力损失的重要组成部分:遗传性听力损失是先天性听力损失的重要组成部分。MARVELD2(OMIM ID:610572)位于DFNB49位点,编码在内耳感觉上皮屏障中起重要作用的紧密连接蛋白三叶蛋白,可能导致非综合征常染色体隐性遗传性听力损失:方法:对两个患有听力损失的汉族血统进行了临床和遗传分析。方法:对两个患有听力损失的汉族血统进行了临床和遗传学分析,通过定向下一代测序检测变异,并将测序数据与人类基因组参考文献(GRCh 37/hg 19)进行比较,以确定突变基因和位点。此外,还使用 RDDC、SpliceAI 和 REVEL 等在线工具预测不同变异的风险:结果:两名患者均未通过新生儿听力筛查,被诊断为感音神经性听力损失。两个家族共检测到 3 个基因突变,分别为 c.1331+1G>A、c.1325A>G 和 c.782G>A。根据 ACMG/AMP 指南,它们分别被判定为致病、意义不确定和意义不确定:这些发现有助于更好地理解 MARVELD2 不同变异与听力之间的关系。结论:这些发现有助于更好地理解 MARVELD2 不同变异与听力之间的关系,从而进一步扩大耳聋基因突变的范围,并有助于耳聋患者的管理和遗传咨询。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families.

Background: Hereditary hearing loss is an important component of congenital hearing loss. MARVELD2 (OMIM ID:610572), located in the DFNB49 locus, which encodes a tight junction protein tricellulin playing an important role in the sensory epithelial barrier of the inner ear, may contribute to nonsyndromic autosomal recessive hereditary hearing loss.

Methods: Two Han Chinese pedigrees with hearing loss underwent clinical and genetic analyses. Variants were detected by targeted next-generation sequencing and sequencing data were compared with the Human Genome Reference (GRCh 37/hg 19) to identify mutant genes and loci. Furthermore, online tools such as RDDC, SpliceAI, and REVEL were used to predict risks from different variants.

Results: Both two probands failed neonatal hearing screening and were diagnosed with sensorineural hearing loss. A total of 3 mutations were detected in the two families, c.1331+1G>A, c.1325A>G, and c.782G>A. According to ACMG/AMP guidelines, they were judged to be pathogenic, uncertain significance, and uncertain significance, respectively.

Conclusions: These findings contribute to a better understanding of the relationship between different variants of MARVELD2 and hearing. This could further expand the spectrum of deafness gene mutations and contribute to deafness patient management and genetic counseling.

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来源期刊
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
4.20
自引率
0.00%
发文量
241
审稿时长
14 weeks
期刊介绍: Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.
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