The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness

被引：22

作者：

Feldmann, D

Denoyelle, F

Blons, N

Lyonnet, S

Loundon, N

Rouillon, I

Hadj-Rabia, S

Petit, C

Couderc, R

Garabédian, EN

Marlin, S

机构：

[1] Hop Enfants Armand Trousseau, Unite Genet Med, F-75012 Paris, France

[2] Hop Enfants Armand Trousseau, Lab Biochim & Biol Mol, F-75012 Paris, France

[3] Inst Pasteur, INSERM, U587, Paris, France

[4] Hop Enfants Armand Trousseau, Paris, France

[5] Hop Enfants Armand Trousseau, Serv ORL & Chirurg Cerv Faciale, Paris, France

[6] Hop Necker Enfants Malad, Gen Med Serv, Paris, France

[7] Hop Necker Enfants Malad, Serv Dermatol, F-75730 Paris, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2005年 / 137A卷 / 02期

关键词：

D O I：

10.1002/ajmg.a.30765

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：225 / 227

页数：3

共 12 条

[1] Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect:: implications for genetic counselling [J].

Denoyelle, F ;

Marlin, S ;

Weil, D ;

Moatti, L ;

Chauvin, P ;

Garabédian, EN ;

Petit, C .

LANCET, 1999, 353 (9161) :1298-1303

[2] Connexin 26 gene linked to a dominant deafness [J].

Denoyelle, F ;

Lina-Granade, G ;

Plauchu, H ;

Bruzzone, R ;

Chaïb, H ;

Lévi-Acobas, F ;

Weil, D ;

Petit, C .

NATURE, 1998, 393 (6683) :319-320

[3] Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation:: Genotypic and phenotypic analysis [J].

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 .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 127A (03) :263-267

[4] De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss [J].

Janecke, AR ;

Nekahm, D ;

Löffler, J ;

Hirst-Stadlmann, A ;

Müller, T ;

Utermann, G .

HUMAN GENETICS, 2001, 108 (03) :269-270

[5] Connexin 26 mutations in hereditary non-syndromic sensorineural deafness [J].

Kelsell, DP ;

Dunlop, J ;

Stevens, HP ;

Lench, NJ ;

Liang, JN ;

Parry, G ;

Mueller, RF ;

Leigh, IM .

NATURE, 1997, 387 (6628) :80-83

[6] Connexin mutations in skin disease and hearing loss [J].

Kelsell, DP ;

Di, WL ;

Houseman, MJ .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (03) :559-568

[7] Upregulation of connexin 26 is a feature of keratinocyte differentiation in hyperproliferative epidermis, vaginal epithelium, and buccal epithelium [J].

Lucke, T ;

Choudhry, R ;

Thom, R ;

Selmer, IS ;

Burden, AD ;

Hodgins, MB .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1999, 112 (03) :354-361

[8]

Petit C., 2001, METABOLIC MOL BASES, V8, P6281

[9] Connexin mutations in hearing loss, dermatological and neurological disorders [J].

Rabionet, R ;

López-Bigas, N ;

Arbonès, ML ;

Estivill, X .

TRENDS IN MOLECULAR MEDICINE, 2002, 8 (05) :205-212

[10] Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome [J].

Richard, G ;

Rouan, F ;

Willoughby, CE ;

Brown, N ;

Chung, P ;

Ryynänen, M ;

Jabs, EW ;

Bale, SJ ;

DiGiovanna, JJ ;

Uitto, J ;

Russell, L .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (05) :1341-1348

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