Mutation screening of the GJA7 (Cx45) gene in a large international series of probands with nonsyndromic hearing impairment.
Direct evidence of the critical physiological role of connexins (Cxs) has come through the associations of several human diseases with pathogenic mutations in specific Cx genes. Currently, mutations in genes coding for five Cx proteins (Cx26, Cx30, Cx31, Cx32, and Cx43) have been shown to cause sensorineural hearing loss. Cx45 is another gap junction protein, coded by the GJA7 gene. To investigate the possible contribution of GJA7 mutations to deafness, we sequenced the GJA7 gene in 341 unrelated probands with nonsyndromic hearing loss from Turkey, South Africa, United Kingdom, United States, and China. Three nucleotide variants not affecting the amino acid sequence, c.213C>T, c.906C>T, and c.912G>T, and one missense change, c.889C>A (p.D297N), were found. None of the identified changes appeared to be pathogenic. Our data suggest that GJA7 alterations have no or low genetic relevance in nonsyndromic hearing loss in these populations.
Department of Otolaryngology, University of Miami, Miami, Florida, USA.
Xiao Mei
XM
Ouyang
Denise
D
Yan
Idil
I
Aslan
Li Lin
LL
Du
Mustafa
M
Tekin
Xue-Zhong
XZ
Liu
D002681:China; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005190:Family; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D038622:Internationality; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D013019:South Africa; D014421:Turkey; D006113:United Kingdom; D014481:United States
D017630:Connexins; C000607042:GJB2 protein, human; C082920:connexin 45; D000072259:Connexin 26
J Invest Dermatol. 2003 Apr;120(4):601-9
12648223
Science. 1993 Dec 24;262(5142):2039-42
8266101
Nature. 1997 May 1;387(6628):80-3
9139825
Eur J Biochem. 1996 May 15;238(1):1-27
8665925
Nat Genet. 1997 Jun;16(2):188-90
9171832
Cell Tissue Res. 2004 Apr;316(1):15-22
14986102
Br J Audiol. 1997 Dec;31(6):409-46
9478287
Annu Rev Biochem. 1996;65:475-502
8811187
Nat Genet. 1999 Sep;23(1):16-8
10471490
Am J Hum Genet. 2003 Feb;72(2):408-18
12457340
Hum Genet. 1998 Oct;103(4):393-9
9856479
Am J Med Genet. 1993 Jun 15;46(5):486-91
8322805
Brain Res Brain Res Rev. 2000 Apr;32(1):181-3
10751668
Lancet. 1998 Feb 7;351(9100):394-8
9482292
Am J Hum Genet. 1993 Feb;52(2):312-8
8430694
Nat Genet. 2000 Oct;26(2):142-4
11017065