携带有5;13染色体平衡易位基因的父子所患的营养不良性大疱性表皮松解症与ERBB2IP基因断裂无关  

Disruption of ERBB2IP is not associated with dystrophic epidermolysis bullosa in both father and son carrying a balanced 5;13 translocation

作　　者：Stefanova M. Zemke K. Dimitrov B. K. Kutsche 任建文 

机构地区：[1]Institut für Humangenetik, Universittsklinikum Hamburg-Eppendorf, Butenfeld 42, D-22529 Hamburg, Germany Dr.

出　　处：《世界核心医学期刊文摘（皮肤病学分册）》2006年第8期12-13,共2页Digest of the World Core Medical JOurnals:Dermatology

摘　　要：Mutations in the type VII collagen gene (COL7A1) cause autosomal recessive and autosomal dominant inherited dystrophic epidermolysis bullosa (DEB). We report a family with three individuals who present blistering, scarring, hypo- and hyperpigmentation, and nail dystrophy suggestive for DEB.Whereas father and son carry a 5;13 translocation, the daughter shows a normal karyotype. Segregation analysis revealed that all affected family members inherited the same COL7A1 allele. Mutation analysis disclosed a heterozygous missense mutation, c.6227G > A (p.G2076D), in COL7A1 in all affected individuals. Delineation of the translocation breakpoints showed that the ERBB2IP (erbb2 interacting protein or Erbin) gene is disrupted in 5q13.1 and GPC6 in 13q32. GPC6 encodes glypican 6 belonging to a family of cell surface heparan sulfate proteoglycans. The binding partners of Erbin,BP230 (BPAG1)- and the integrin β 4 subunit, both involved in hemidesmosome (HD) function, and the presence of Erbin in HD suggested that it plays a role in establishment and maintenance of cell-basement membrane adhesions. However, loss of function of one ERBB2IP copy or expression of a putative novel ERBB2IP fusion protein did not apparently modulate the DEB phenotype in both translocation patients. Nonetheless, one cannot yet exclude that ERBB2IP is a candidate for human blistering disorders such as epidermolysis bullosa.Mutations in the type VII collagen gene （COLTA1） cause autosomal recessive and autosomal dominant inherited dystrophic epidermolysis bullosa （DEB） . We report a family with three individuals who present blistering, scarring, hypo- and hyperpigmentation, and nail dystrophy suggestive for DEB. Whereas father and son carry a 5; 13 translocation, the daughter shows a normal karyotype. Segregation analysis revealed that all affected family members inherited the same COL7A1 allele. Mutation analysis disclosed a heterozygous missense mutation, c. 6227G 〉 A （p. G2076D）, in COL7A1 in all affected individuals. Delineation of the translocation breakpoints showed that the ERBB2IP （erbb2 interacting protein or Erbin） gene is disrupted in 5q13.1 and GPC6 in 13q32. GPC6 encodes glypican 6 belonging to a family of cell surface heparan sulfate proteoglycans. The binding partners of Erbin, BP230 （BPAG1） - and the integrin 134 subunit, both involved in hemidesmosome （HD） function, and the presence of Erbin in HD suggested that it plays a role in establishment and maintenance of cell-basement membrane adhesions. However, loss of function of one ERBB2IP copy or expression of a putative novel ERBB2IP fusion protein did not apparently modulate the DEB phenotype in both translocation patients. Nonetheless,

关 键 词：营养不良性大疱性表皮松解症 染色体平衡易位 基因断裂 父子 常染色体显性 I型胶原基因 COL7A1 家系成员 错义突变 甲营养不良 

分 类 号：R758.59[医药卫生—皮肤病学与性病学] R596.1[医药卫生—临床医学]