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

被引：38

作者：

Feldmann, D

Denoyelle, F

Chauvin, P

Garabédian, EN

Couderc, M

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, PTB

Goizet, C

Duriez, F

Fellmann, F

Hélias, J

Vigneron, J

Montaut, B

Lewin, P

Petit, C

Marlin, S

机构：

[1] Hop Enfants Armaud Trousseau, INSERM, APHP, Serv Biochim & Biol Mol,U587, Paris, France

[2] Hop Enfants Armaud Trousseau, Serv ORL & Chirurg Cerv Faciale, INSERM, U587,AP HP, Paris, France

[3] Univ Paris 06, INSERM, U444, Unite Rech Epidemiol & Sci Informat, Paris, France

[4] Hop Pontchaillou, Unite Genet, Rennes, France

[5] CHU Grenoble, Serv Pediat, Grenoble, France

[6] CHU Grenoble, Serv ORL, Grenoble, France

[7] Hop St Antoine, Ctr Genet, Lille, France

[8] Ctr Rochin, Lille, France

[9] CHR, Unite Genet Med, Vannes, France

[10] Ctr G Deshayes, Auray, France

[11] CHU Brest, Lab Genet Mol & Histocompatibil, Brest, France

[12] Hop Hautepierre, Serv Genet Med, Strasbourg, France

[13] Hop Hautepierre, Serv ORL, Strasbourg, France

[14] Fac Med, Lab Diagnost Genet, Strasbourg, France

[15] Hop Hotel Dieu, Serv Genet, Nantes, France

[16] Hop Hotel Dieu, Serv ORL, Nantes, France

[17] Hop Charles Nicolle, Serv Genet, Rouen, France

[18] Hop Charles Nicolle, Serv ORL, Rouen, France

[19] Hop Beaujon, APHP, Serv ORL, Clichy, France

[20] Hop Lariboisiere, Serv ORL, APHP, Paris, France

[21] Hop Pellegrin, Unite Genet Med, Bordeaux, France

[22] Hop Pellegrin, Serv ORL, Bordeaux, France

[23] Hop St Jacques, Cytogenet Serv, Besancon, France

[24] Hop Minjoz, Serv ORL, Besancon, France

[25] Maternite Reg A Pinard, Unite Genet Med Neonat, Nancy, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2004年 / 127A卷 / 03期

关键词：

congenital deafness; genetic deafness; GJB2; GJB6;

D O I：

10.1002/ajmg.a.20588

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 GJB21GJB6 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. (C) 2004 Wiley-Liss, Inc.

引用

页码：263 / 267

页数：5

共 26 条

[1] Prevalent connexin 26 gene (GJB2) mutations in Japanese [J].