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Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.

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.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Wang H,Wang X,He C,Li H,Qing J,Grati M,Hu Z,Li J,Hu Y,Xia K,Mei L,Wang X,Yu J,Chen H,Jiang L,Liu Y,Men M,Zhang H,Guan L,Xiao J,Zhang J,Liu X,Feng Y

doi

10.1038/jhg.2014.114

subject

Has Abstract

pub_date

2015-03-01 00:00:00

pages

119-126

issue

3

eissn

1434-5161

issn

1435-232X

journal_volume

60

pub_type

杂志文章

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