Disruption of ERBB21P is not associated with dystrophic epidermolysis bullosa in both father and son carrying a balanced 5;13 translocation

JOURNAL OF INVESTIGATIVE DERMATOLOGY

卷:125

Article

Stefanova, M ; Zemke, K ; Dimitrov, B ; Has, C ; Kern, JS ; Bruckner-Tuderman, L ; Kutsche, K

关键词: disrupted gene;    dystrophic epidermolysis bullosa;    ERBB21P;    GPC6;    translocation breakpoint;   

DOI  :  10.1111/j.0022-202X.2005.23875.x

来源: Elsevier

【 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 ERBB21P (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 beta 4 subunit, both involved in hemidesmosome (HD) function, and the presence of Erbin in HID suggested that it plays a role in establishment and maintenance of cell-basement membrane adhesions. However, loss of function of one ERBB21P copy or expression of a putative novel ERBB21P fusion protein did not apparently modulate the DEB phenotype in both translocation patients. Nonetheless, one cannot yet exclude that ERBB21P is a candidate for human blistering disorders such as epidermolysis bullosa.

【 授权许可】

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