Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association.

Genetics Research International
Tiago D MatosG Fialho

Abstract

Involvement of GJB2 noncoding regions in hearing loss (HL) has not been extensively investigated. However, three noncoding mutations, c.-259C>T, c.-23G>T, and c.-23+1G>A, were reported. Also, c.-684_-675del, of uncertain pathogenicity, was found upstream of the basal promoter. We performed a detailed analysis of GJB2 noncoding regions in Portuguese HL patients (previously screened for GJB2 coding mutations and the common GJB6 deletions) and in control subjects, by sequencing the basal promoter and flanking upstream region, exon 1, and 3'UTR. All individuals were genotyped for c.-684_-675del and 14 SNPs. Novel variants (c.-731C>T, c.-26G>T, c.*45G>A, and c.*985A>T) were found in controls. A hearing individual homozygous for c.-684_-675del was for the first time identified, supporting the nonpathogenicity of this deletion. Our data indicate linkage disequilibrium (LD) between SNPs rs55704559 (c.*168A>G) and rs5030700 (c.*931C>T) and suggest the association of c.[*168G;*931T] allele with HL. The c.*168A>G change, predicted to alter mRNA folding, might be involved in HL.

References

Nov 26, 1996·Proceedings of the National Academy of Sciences of the United States of America·C Y BrownG J Goodall
Nov 14, 1997·Gene·D T KiangH H Lin
Dec 5, 1998·Biochimica Et Biophysica Acta·Z J Tu, D T Kiang
Jan 25, 2002·The New England Journal of Medicine·Ignacio del CastilloFelipe Moreno
Dec 24, 2002·Human Mutation·Mani T ValarmathiSatya N Das
Jun 26, 2003·Nucleic Acids Research·Michael Zuker
Oct 18, 2005·Molecular and Cellular Biology·Isabel López de SilanesMyriam Gorospe
Jul 31, 2007·Journal of Medical Genetics·T D MatosG Fialho
Oct 23, 2008·European Journal of Human Genetics : EJHG·Ram Shankar ManiAnuranjan Anand
Apr 8, 2009·Genome Medicine·Peter D StensonDavid N Cooper
Sep 3, 2009·Biochemical and Biophysical Research Communications·Juan Rodriguez-Paris, Iris Schrijver
Nov 17, 2010·Proceedings of the National Academy of Sciences of the United States of America·A Eliot ShearerRichard J H Smith

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Methods Mentioned

BETA
PCR

Software Mentioned

SNPAnalyzer
Ensembl
Mfold

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