Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.

Delphine Feldmann, Françoise Denoyelle, Pierre Chauvin, Eréa-Noël Garabédian, Rémy Couderc, Sylvie Odent, Alain Joannard, Sébastien Schmerber, Bruno Delobel, Jacques Leman, Hubert Journel, Hélène Catros, Cédric Le Maréchal, Hélène Dollfus, Marie-Madeleine Eliot, Jean-Pierre Delaunoy, Albert David, Catherine Calais, Valérie Drouin-Garraud, Marie-Françoise Obstoy, Didier Bouccara, Olivier Sterkers, Patrice Tran Ba Huy, Cyril Goizet, Françoise Duriez, Florence Fellmann, Jocelyne Hélias, Jacqueline Vigneron, Bétina Montaut, Patricia Lewin, Christine Petit, Sandrine Marlin
Am. J. Med. Genet.. 2004-03-05; 127A(3): 263-267
DOI: 10.1002/ajmg.a.20588


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1. Am J Med Genet A. 2004 Jun 15;127A(3):263-7.

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene
mutation: genotypic and phenotypic analysis.

Feldmann D(1), Denoyelle F, Chauvin P, Garabédian EN, Couderc R, Odent S,
Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Le Maréchal C,
Dollfus H, Eliot MM, Delaunoy JP, David A, Calais C, Drouin-Garraud V, Obstoy MF,
Bouccara D, Sterkers O, Huy PT, Goizet C, Duriez F, Fellmann F, Hélias J,
Vigneron J, Montaut B, Lewin P, Petit C, Marlin S.

Author information:
(1)Service de Biochimie et de Biologie Moléculaire, Hôpital d’Enfants
Armand-Trousseau, INSERM U587, AP-HP, Paris, France.

Recent investigations identified a large deletion of the GJB6 gene in trans to a
mutation of GJB2 in deaf patients. We looked for GJB2 mutations and GJB6
deletions in 255 French patients presenting with a phenotype compatible with
DFNB1. 32% of the patients had biallelic GJB2 mutations and 6% were a
heterozygous for a GJB2 mutation and a GJB6 deletion. Biallelic GJB2 mutations
and combined GJB2/GJB6 anomalies were more frequent in profoundly deaf children.
Based on these results, we are now assessing GJB6 deletion status in cases of
prelingual hearing loss.

Copyright 2004 Wiley-Liss, Inc.

DOI: 10.1002/ajmg.a.20588
PMID: 15150777 [Indexed for MEDLINE]

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