NDLI: Exome Sequencing Identifies a Novel CEACAM16 Mutation Associated with Autosomal Dominant Nonsyndromic Hearing Loss DFNA4B in a Chinese Family

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Exome Sequencing Identifies a Novel CEACAM16 Mutation Associated with Autosomal Dominant Nonsyndromic Hearing Loss DFNA4B in a Chinese Family

Content Provider	PubMed Central
Author	Wang, Honghan Wang, Xinwei Chufeng, He Haibo, Li Qing, Jie Grati, Mhamed Hu, Zhengmao Li, Jiada Hu, Yiqiao Xia, Kun Mei, Lingyun Wang, Xingwei Yu, Jianjun Chen, Hongsheng Jiang, Lu Liu, Yalan Men, Meichao Zhang, Hailin Guan, Liping Xiao, Jingjing Zhang, Jianguo Liu, Xuezhong Feng, Yong
Abstract	Autosomal dominant nonsyndromic hearing loss (ADNSHL/DFNA) is a highly genetically heterogeneous disorder. Hitherto only about 30 ADNSHL-causing genes have been identified and many unknown genes remain to be discovered. In this research, genome-wide linkage analysis mapped the disease locus to a 4.3 Mb region on chromosome 19q13 in SY-026, a five-generation nonconsanguineous Chinese family affected by late-onset and progressive ADNSHL. This linkage region showed partial overlap with the previously reported DFNA4. Simultaneously, probands were analyzed using exome capture followed by next generation sequencing. Encouragingly, a heterozygous missense mutation, c.505G>A (p.G169R) in exon 3 of the CEACAM16 gene (carcinoembryonic antigen-related cell adhesion molecule 16), was identified via this combined strategy. Sanger sequencing verified that the mutation co-segregated with hearing loss in the family and that it was not present in 200 unrelated control subjects with matched ancestry. This is the second report in the literature of a family with ADNSHL caused by CEACAM16 mutation. Immunofluorescence staining and Western blots also prove CEACAM16 to be a secreted protein. Furthermore, our studies in transfected HEK293T cells show that the secretion efficacy of the mutant CEACAM16 is much lower than that of the wild-type, suggesting a deleterious effect of the sequence variant.
Related Links	http://dx.doi.org/10.1038/jhg.2014.114
Ending Page	126
Page Count	8
Starting Page	119
File Format	PDF
ISSN	14345161
e-ISSN	1435232X
Journal	Journal of human genetics
Issue Number	3
Volume Number	60
Language	English
Publisher Date	2015-03-01
Access Restriction	Open
Subject Keyword	Genetics(clinical) Genetics Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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