Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin

被引：62

作者：

Norgett, Elizabeth E. ^{[1
]}

Lucke, Tom W.

Bowers, Bill

Munro, Colin S.

Leigh, Irene M.

Kelsell, David P.

机构：

[1] Queen Mary Univ London, Ctr Cutaneous Res, Inst Cell & Mol Sci, London, England

[2] Royal Cornwall Hosp, Dept Dermatol, Truro, England

[3] S Glasgow Univ Hosp, Glasgow, Lanark, Scotland

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2006年 / 126卷 / 07期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/sj.jid.5700291

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：1651 / 1654

页数：5

共 14 条

[1] A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair [J].

Alcalai, R ;

Metzger, S ;

Rosenheck, S ;

Meiner, V ;

Chajek-Shaul, T .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2003, 42 (02) :319-327

[2] Embryonic heart and skin defects in mice lacking plakoglobin [J].

Bierkamp, C ;

McLaughlin, KJ ;

Schwarz, H ;

Huber, O ;

Kemler, R .

DEVELOPMENTAL BIOLOGY, 1996, 180 (02) :780-785

[3] Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy [J].

Gerull, B ;

Heuser, A ;

Wichter, T ;

Paul, M ;

Basson, CT ;

McDermott, DA ;

Lerman, BB ;

Markowitz, SM ;

Ellinor, PT ;

MacRae, CA ;

Peters, S ;

Grossmann, KS ;

Michely, B ;

Sasse-Klaassen, S ;

Birchmeier, W ;

Dietz, R ;

Breithardt, G ;

Schulze-Bahr, E ;

Thierfelder, L .

NATURE GENETICS, 2004, 36 (11) :1162-1164

[4] Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation [J].

Grossmann, KS ;

Grund, C ;

Huelsken, J ;

Behrend, M ;

Erdmann, B ;

Franke, WW ;

Birchmeier, W .

JOURNAL OF CELL BIOLOGY, 2004, 167 (01) :149-160

[5] Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma [J].

Keith, D ;

Armstrong, B ;

McKenna, KE ;

Purkis, PE ;

Green, KJ ;

Eady, RAJ ;

Leigh, IM ;

Hughes, AE .

HUMAN MOLECULAR GENETICS, 1999, 8 (01) :143-148

[6] The head domain of plakophilin-1 binds to desmoplakin and enhances its recruitment to desmosomes - Implications for cutaneous disease [J].

Kowalczyk, AP ;

Hatzfeld, M ;

Bornslaeger, EA ;

Kopp, DS ;

Borgwardt, JE ;

Corcoran, CM ;

Settler, A ;

Green, KJ .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (26) :18145-18148

[7] The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes [J].

Kowalczyk, AP ;

Bornslaeger, EA ;

Borgwardt, JE ;

Palka, HL ;

Dhaliwal, AS ;

Corcoran, CM ;

Denning, MF ;

Green, KJ .

JOURNAL OF CELL BIOLOGY, 1997, 139 (03) :773-784

[8] MONOSPECIFIC MONOCLONAL-ANTIBODIES TO KERATIN-1 CARBOXY-TERMINAL (SYNTHETIC PEPTIDE) AND TO KERATIN-10 AS MARKERS OF EPIDERMAL DIFFERENTIATION [J].

LEIGH, IM ;

PURKIS, PE ;

WHITEHEAD, P ;

LANE, EB .

BRITISH JOURNAL OF DERMATOLOGY, 1993, 129 (02) :110-119

[9] Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease) [J].

McKoy, G ;

Protonotarios, N ;

Crosby, A ;

Tsatsopoulou, A ;

Anastasakis, A ;

Coonar, A ;

Norman, M ;

Baboonian, C ;

Jeffery, S ;

McKenna, WJ .

LANCET, 2000, 355 (9221) :2119-2124

[10] Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma [J].

Norgett, EE ;

Hatsell, SJ ;

Carvajal-Huerta, L ;

Cabezas, JCR ;

Common, J ;

Purkis, PE ;

Whittock, N ;

Leigh, IM ;

Stevens, HP ;

Kelsell, DP .

HUMAN MOLECULAR GENETICS, 2000, 9 (18) :2761-2766

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