A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness

被引：34

作者：

Brown, CW

Levy, ML

Flaitz, CM

Reid, BS

Manolidis, S

Hebert, AA

Bender, MM

Heilstedt, HA

Plunkett, KS

Fang, P

Roa, BB

Chung, P

Tang, HY

Richard, G

Alford, RL

机构：

[1] Baylor Coll Med, Bobby R Alford Dept Otorhinolaryngol & Communicat, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[3] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[4] Baylor Coll Med, Dept Dermatol, Houston, TX 77030 USA

[5] Univ Texas, Hlth Sci Ctr, Dept Diagnost Sci, Div Oral & Maxillofacial Pathol, Houston, TX USA

[6] Univ Texas, Hlth Sci Ctr, Dept Dermatol, Houston, TX USA

[7] Univ Texas, Hlth Sci Ctr, Dept Pediat, Houston, TX USA

[8] Pediat Digest Dis Specialists Penn, Houston, TX USA

[9] Thomas Jefferson Univ, Dept Dermatol & Cutaneous Biol, Philadelphia, PA 19107 USA

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2003年 / 121卷 / 05期

关键词：

D O I：

10.1046/j.1523-1747.2003.12550_4.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：1221 / 1223

页数：3

共 23 条

[1]

BENNETT MVL, 1991, NEURON, V6, P305, DOI 10.1016/0896-6273(91)90241-Q

[2]

CALVO J, 2003, ESTIVILL X CONNEXINS

[3] Inherited susceptibility to aminoglycoside ototoxicity: Genetic heterogeneity and clinical implications [J].

Casano, RAMS ;

Johnson, DF ;

Bykhovskaya, Y ;

Torricelli, F ;

Bigozzi, M ;

Fischel-Ghodsian, N .

AMERICAN JOURNAL OF OTOLARYNGOLOGY, 1999, 20 (03) :151-156

[4]

HENNEMANN H, 1992, J BIOL CHEM, V267, P17225

[5] 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

[6] GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review [J].

Kenneson, A ;

Braun, KV ;

Boyle, C .

GENETICS IN MEDICINE, 2002, 4 (04) :258-274

[7]

Lerer I, 2001, Hum Mutat, V18, P460, DOI 10.1002/humu.1222

[8]

Macari F, 2000, AM J HUM GENET, V67, P1296

[9] Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30 [J].

Marziano, NK ;

Casalotti, SO ;

Portelli, AE ;

Becker, DL ;

Forge, A .

HUMAN MOLECULAR GENETICS, 2003, 12 (08) :805-812

[10] Molecular mechanism underlying a Cx50-linked congenital cataract [J].

Pal, JD ;

Berthoud, VM ;

Beyer, EC ;

Mackay, D ;

Shiels, A ;

Ebihara, L .

AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY, 1999, 276 (06) :C1443-C1446

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