One Genetic Defect and Two Related Entities in Monozygotic Twins: Otosclerosis and Superior Semicircular Canal Near Dehiscence Syndrome.
One Genetic Defect and Two Related Entities in Monozygotic Twins: Otosclerosis and Superior Semicircular Canal Near Dehiscence Syndrome.
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DOI：
10.7874/jao.2021.00381
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发表时间：
2022-04
影响因子：
1.1
通讯作者：
Pehli van D
中科院分区：
文献类型：
--
作者：
Ocal FCA;Kavus H;Satar B;Pehli van D
本研究的目的是评估53岁的单卵双胞胎谁有双侧耳硬化症和右侧上级半规管近裂（SSCND）的临床和遗传学研究结果。53岁的单卵双胞胎表现为传导性听力损失，鼓膜正常。详细的听前庭测试和计算机断层扫描显示，这两名患者并发耳硬化症和SSCND。保守治疗（助听器）是这些患者的治疗方法。对双胞胎及其患病母亲的外显子组测序（ES）确定了EYA 4（c.1744G>A; p.Glu582Lys）基因的杂合错义变体。这是第一个病例报告，提出这些单独的实体确定在单卵双胞胎与一个杂合子错义变异EYA 4基因。我们的ES数据可能意味着EYA 4基因变异与并发耳硬化症和SSCND之间可能存在因果关系或关联。
The purpose of this study was to evaluate the clinical and genetic findings of 53-year-old monozygotic twins who had bilateral otosclerosis and right-sided superior semicircular canal near dehiscence (SSCND). Monozygotic twins at the age of 53 presented with conductive hearing loss and normal tympanic membranes. Detailed audiovestibular testing and computed tomography scan revealed that both patients had concurrent otosclerosis and SSCND. Conservative management (hearing aids) was the treatment for these patients. Exome sequencing (ES) for the twins and their affected mother identified a heterozygous missense variant in the EYA4 (c.1744G>A; p.Glu582Lys) gene. This is the first case report to present these separate entities identified in monozygotic twins with a heterozygous missense variant in the EYA4 gene. Our ES data may imply a possible causal relationship or association between variants in the EYA4 gene and concurrent otosclerosis and SSCND.
影响因子：
1
作者：
Lehmann M;Ebmeyer J;Upile T;Sudhoff HH
通讯作者：
Sudhoff HH