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A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment

机译：与耳后听力障碍有关的 CEACAM16 中的新型从头突变

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Mutations in CEACAM16 cause autosomal dominant nonsyndromic hearing loss (DFNA4B). So far, 2 families have been reported with segregating missense mutations, both in the immunoglobulin constant domain A of the CEACAM16 protein. In this study, we used the TruSight One panel to investigate a parent-child trio without familial history of hearing loss and one affected child. When filtering for recessive inheritance and de novo events, we discovered a de novo CEACAM16 mutation (c.1094T>G, p.Leu365Arg) as the sole likely pathogenic variant. The de novo mutation was confirmed by Sanger sequencing and STR analysis. The proband's hearing loss closely matches the described onset and severity for DFNA4B. We present the third CEACAM16 variant and the first de novo mutation in CEACAM16. This de novo mutation is robustly described as a pathogenic mutation according to in silico mutation prediction tools and affects a highly conserved amino acid in the most strongly conserved CEACAM16 N2 domain. Our strategy of screening family trios enhances de novo mutation discovery and the exclusion of other variants of potential interest through pedigree filtering.
机译：CEACAM16中的突变会导致常染色体显性非综合征性听力丧失（DFNA4B）。迄今为止，已经报道了在CEACAM16蛋白的免疫球蛋白恒定域A中都有分离的错义突变的2个家族。在这项研究中，我们使用TruSight One小组调查了没有家族性听力损失史的亲子三重奏和一名受影响的孩子。在筛选隐性遗传和从头事件时，我们发现了从头CEACAM16突变（c.1094T> G，p.Leu365Arg）是唯一可能的致病变异。通过Sanger测序和STR分析确认了从头突变。先证者的听力损失与DFNA4B所述的发作和严重程度非常匹配。我们提出了CEACAM16中的第三个CEACAM16变体和第一个从头突变。根据计算机突变预测工具，该从头突变被强烈描述为致病突变，并影响到最强保守的CEACAM16 N2域中的高度保守的氨基酸。我们筛选家庭三重奏的策略可增强从头突变的发现，并通过血统筛选来排除潜在的其他潜在变异。

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