两例耳聋病例中MARVELD2基因变异的遗传学分析

doi:10.6040/j.issn.1673-3770.0.2025.101

摘要/Abstract

摘要： 目的使用高通量测序技术对两例耳聋患者及家系成员进行耳聋基因测序,探讨其可能的遗传学病因。方法回顾性分析方法对两例先证者及家系成员进行病史采集、体格检查、听力学评估,并进行耳聋基因检测和遗传学分析。结果两家系先证者均为双耳极重度感音神经性耳聋,未合并其他系统性异常或综合征性表现,基因检测结果为两家系先证者均存在MARVELD2基因纯合/复合杂合致病变异。家系A先证者检出c.1331+1G>A纯合变异,变异来源于其父母;家系B先证者检出c.1331+1G>A/c.782G>A(p.Gly261Glu)复合杂合变异,并将c.1331+1G>A杂合变异遗传至其女儿。结论 MARVELD2基因功能丧失型变异可以导致先天性重度感音神经性耳聋,MARVELD2基因的检测对耳聋基因的筛查、诊断、以及产前遗传学咨询具有重要意义。

关键词: 耳聋, MARVELD2基因, 遗传学, 高通量测序技术, 重度感音神经性耳聋

Abstract: Objective Next generation sequencing technology was used to investigate the potential genetic causes of deafness in two probands and their families. Methods A retrospective analysis was conducted on two probands and their family members. This analysis included collecting medical histories, performing physical examinations, conducting audiological evaluations, and performing genetic testing and analysis for deafness. Results Both probands exhibited bilateral profound sensorineural hearing loss and had no other systemic abnormalities or syndromic features. Genetic testing revealed pathogenic variants in the MARVELD2 gene in both probands,either homozygous or compound heterozygous. The proband in family A carried a homozygous c.1331+1G>A variant that she inherited from her parents. The proband in family B carried compound heterozygous variants c.1331+1G>A/c.782G>A(p.Gly261Glu)and transmitted the heterozygous c.1331+1G>A variant to her daughter. Conclusion This study strengthens the evidence that loss-of-function variants in the MARVELD2 gene can cause profound sensorineural hearing loss. Testing for the MARVELD2 gene is significant for screening, diagnosing, and providing prenatal genetic counseling for deafness.

Key words: Deafness, MARVELD2 gene, Genetic, Next generation sequencing technology, Severe sensorineural hearing loss

中图分类号:

R764.43

李洁,苏维娜,林倩,张奇舒,侯成,杨振娇,相丽丽. 两例耳聋病例中MARVELD2基因变异的遗传学分析[J]. 山东大学耳鼻喉眼学报, 2025, 39(4): 128-134.

LI Jie, SU Weina, LIN Qian, ZHANG Qishu, HOU Cheng, YANG Zhenjiao, XIANG Lili. Genetic analysis of MARVELD2 gene variants in two deafness cases[J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2025, 39(4): 128-134.

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