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Original Article

Editor's Choice - Free Access

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

Hofrichter M.A.H.a · Nanda I.a · Gräf J.a · Schröder J.a · Shehata-Dieler W.b · Vona B.a · Haaf T.a

Author affiliations

aDepartment of Human Genetics, Julius Maximilian University, and bDepartment of Otorhinolaryngology, Comprehensive Hearing Center, University Hospitals, Würzburg, Germany

Corresponding Author

Barbara Vona

Institute of Human Genetics, Julius Maximilian University

Biozentrum, Am Hubland

DE-97074 Würzburg (Germany)

E-Mail barbara.vona@uni-wuerzburg.de

Related Articles for ""

Mol Syndromol 2015;6:156-163

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Abstract

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.

© 2015 S. Karger AG, Basel


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Article / Publication Details

First-Page Preview
Abstract of Original Article

Accepted: August 13, 2015
Published online: September 03, 2015
Issue release date: October 2015

Number of Print Pages: 8
Number of Figures: 2
Number of Tables: 1

ISSN: 1661-8769 (Print)
eISSN: 1661-8777 (Online)

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