A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma

被引：6

作者：

Ashoor, G.

Masse, M.

Luciano, L. M. Garcia

Sheffer, R.

Martinez-Mir, A.

Christiano, A. M.

Zlotogorski, A. ^{[1
]}

机构：

[1] Guys Kings Coll, St Johns Inst Dermatol, Genet Skin Dis Grp, London, England

[2] St Thomas Hosp, Sch Med, London, England

[3] Columbia Univ, Dept Dermatol, New York, NY 10027 USA

[4] Columbia Univ, Dept Genet & Dev, New York, NY 10027 USA

[5] Hebrew Univ Jerusalem, Hadassah Med Ctr, Dept Human Genet, IL-91120 Jerusalem, Israel

[6] Hebrew Univ Jerusalem, Hadassah Med Ctr, Dept Dermatol, IL-91120 Jerusalem, Israel

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2006年 / 155卷 / 01期

关键词：

ALOX12B; autosomal recessive; ichthyosis; missense mutation; nonbullous congenital ichthyosiform erythroderma;

D O I：

10.1111/j.1365-2133.2006.07188.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 [皮肤病与性病学];

摘要：

[No abstract available]

引用

页码：198 / 200

页数：3

共 14 条

[1]

The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis [J].

Akiyama, M ;

Sawamura, D ;

Shimizu, H .

CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2003, 28 (03) :235-240

[2]

Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma [J].

Akiyama, M ;

Takizawa, Y ;

Kokaji, T ;

Shimizu, H .

BRITISH JOURNAL OF DERMATOLOGY, 2001, 144 (02) :401-407

[3]

Ichthyosis - Etiology, diagnosis, and management [J].

DiGiovanna, JJ ;

Robinson-Bostom, L .

AMERICAN JOURNAL OF CLINICAL DERMATOLOGY, 2003, 4 (02) :81-95

[4]

Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity [J].

Fischer, J ;

Faure, A ;

Bouadjar, B ;

Blanchet-Bardon, C ;

Karaduman, A ;

Thomas, I ;

Emre, S ;

Cure, S ;

Özgüc, M ;

Weissenbach, J ;

Prud'homme, JF .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (03) :904-913

[5]

MUTATIONS OF KERATINOCYTE TRANSGLUTAMINASE IN LAMELLAR ICHTHYOSIS [J].

HUBER, M ;

RETTLER, I ;

BERNASCONI, K ;

FRENK, E ;

LAVRIJSEN, SPM ;

PONEC, M ;

BON, A ;

LAUTENSCHLAGER, S ;

SCHORDERET, DF ;

HOHL, D .

SCIENCE, 1995, 267 (5197) :525-528

[6]

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1 [J].

Jobard, F ;

Lefèvre, C ;

Karaduman, A ;

Blanchet-Bardon, C ;

Emre, S ;

Weissenbach, J ;

Özgüc, M ;

Lathrop, M ;

Prud'homme, JF ;

Fischer, J .

HUMAN MOLECULAR GENETICS, 2002, 11 (01) :107-113

[7]

Kelsell DP, 2005, AM J HUM GENET, V76, P794

[8]

KIM IG, 1992, J BIOL CHEM, V267, P7710

[9]

Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity [J].

Krebsová, A ;

Küster, W ;

Lestringant, GG ;

Schulze, B ;

Hinz, B ;

Frossard, PM ;

Reis, A ;

Hennies, HC .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (01) :216-222

[10]

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis [J].

Lefèvre, C ;

Bouadjar, B ;

Karaduman, A ;

Jobard, F ;

Saker, S ;

Özguc, M ;

Lathrop, M ;

Prud'homme, JF ;

Fischer, J .

HUMAN MOLECULAR GENETICS, 2004, 13 (20) :2473-2482

← 1 2 →