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A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
Laboratoire de Génétique Moléculaire, 34093 Montpellier cedex, France.
Congenital profound deafness has a known genetic origin in more than 50% of all cases. The majority of the non syndromic hearing loss (NSHL) show an autosomal recessive inheritance. Mutations in the GJB2 gene (connexin 26) account for more than 50% of the recessive non syndromic deafness (DFNB1) among 30 loci. Other connexin genes have been more rarely involved and attention was given here to the GJB6 gene (connexin 30). We show that homozygous deletion of a minimal 150 kb region encompassing this gene causes NSHL. More strikingly, association of this deletion in trans of the GJB2 gene 35delG or E47X mutations is also associated with NSHL.
PMID: 11896458 [PubMed - indexed for MEDLINE]
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Cited by 5 PubMed Central articles
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Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ.
Am J Hum Genet. 2007 Jun; 80(6):1055-63. Epub 2007 Apr 23.
[Am J Hum Genet. 2007]
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Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.
Zariwala MA, Leigh MW, Ceppa F, Kennedy MP, Noone PG, Carson JL, Hazucha MJ, Lori A, Horvath J, Olbrich H, et al.
Am J Respir Crit Care Med. 2006 Oct 15; 174(8):858-66. Epub 2006 Jul 20.
[Am J Respir Crit Care Med. 2006]
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Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele.
Wilch E, Zhu M, Burkhart KB, Regier M, Elfenbein JL, Fisher RA, Friderici KH.
Am J Hum Genet. 2006 Jul; 79(1):174-9. Epub 2006 May 17.
[Am J Hum Genet. 2006]
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