Disruption of ERBB2IP Is not Associated with Dystrophic Epidermolysis Bullosa in Both Father and Son Carrying a Balanced 5;13 Translocation Margarita.

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Disruption of ERBB2IP Is not Associated with Dystrophic Epidermolysis Bullosa in Both Father and Son Carrying a Balanced 5;13 Translocation Margarita Stefanova, Katrin Zemke, Boyan Dimitrov, Christina Has, Johannes S. Kern, Leena Bruckner-Tuderman, Kerstin Kutsche Journal of Investigative Dermatology Volume 125, Issue 4, Pages 700-704 (October 2005) DOI: 10.1111/j.0022-202X.2005.23875.x Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Identification of a pathogenic missense mutation in COL7A1 in three affected family members. (A) Pedigree of the five-generation Bulgarian family. Individuals carrying the 5;13 translocation (t5;13) as well as those with a normal karyotype (N) are indicated. The karyotype of individual IV-4 is not known (?). (B) Partial pedigree of the family and segregation analysis of COL7A1 alleles. The COL7A1 gene is located between markers D3S2420 and D3S2384. All affected persons share one allele (gray box) that was not inherited from the healthy grandmother. (C) A heterozygous p.G2076D missense mutation in COL7A1 in the family members affected by DEB. Electrophortogram of a part of COL7A1 exon 75. Direct sequencing of the exon 75 amplicon revealed a heterozygous base change, c.6227G>A (indicated by a red arrow), causing an amino acid change from glycine (Gly) to aspartic acid (Asp). Journal of Investigative Dermatology 2005 125, 700-704DOI: (10.1111/j.0022-202X.2005.23875.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 The translocation disrupts ERBB2IP in 5q13 and GPC6 in 13q32. (A) Schematic representation of the 5;13 translocation. The ideograms of the normal and derivative (der) chromosomes 5 and 13 are shown. The breakpoints at 5q13 and 13q32 are indicated by wavy lines. (B and C) Identification of overlapping BAC clones for the breakpoint regions in 5q13 and 13q32 by fluorescence in situ hybridization (FISH). (B) FISH with BAC clone CTD-2033C11 hybridized to lymphocyte metaphase spreads of patient IV-5. The probe is labeled by fluorescein isothiocyanate (green). BAC CTD-2033C11 shows signals on wild-type chromosome 5, der(5), and der(13). (C) FISH with BAC clone RP11-158B14 on lymphocyte metaphase spreads of individual IV-5 that produces a signal (green) on wild-type chromosome 13 and on both derivative chromosomes [der(5) and der(13)]. Chromosomes are counterstained with diamidinophenyl indole. (D) Schematic representation of the breakpoint regions in 5q13 (left) and 13q32 (right). Chromosomal parts of 5q13 and 13q32, respectively, are shown schematically. BAC clones used for FISH are indicated by colored bars: BACs hybridizing proximal to the breakpoint are indicated in blue, those hybridizing distal are shown in green, and breakpoint spanning clones are shown in red. Names of BACs are given. Exons of ERBB2IP and GPC6 are represented by black bars and are partially numbered on the left. Breakpoints are indicated by wavy lines. (E) Schematic representation of an ERBB2IP–GPC6 fusion transcript identified in the translocation patients. Exons are indicated by boxes and numbered; white boxes represent various ERBB2IP exons whereas red boxes represent those of the GPC6 gene. The ATG start codon of ERBB2IP in exon 3 is indicated. ERBB2IP amino acids (single letter code) up to the end of exon 7 are shown in black: amino acid residues encoded by GPC6 from exon 6 onward are shown in red. The residues of the novel 51 amino acid peptide resulting from the translocation (encoded by GPC6 exon 6 but in a different open reading frame) are shown in orange. Journal of Investigative Dermatology 2005 125, 700-704DOI: (10.1111/j.0022-202X.2005.23875.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Representative photographs of the family members affected by dystrophic epidermolysis bullosa. Hand of individual III-3 (A), that of the daughter of III-3 (IV-2) (B), and one hand of the 9-y-old son of patient III-3 (IV-5) (C). Toenails of patients IV-2 (D) and IV-5 (E). Pretibial region of individual III-3 (F), his daughter (G), and son (H). Facial appearance of patient III-3 (I and J) and his son (IV-5) (K and L). Note hypoplasia of the maxilla in both individuals. For detailed description of the photos, see text. Journal of Investigative Dermatology 2005 125, 700-704DOI: (10.1111/j.0022-202X.2005.23875.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions