A Novel COL7A1 Gene Mutation in an Iranian Individual Suffering Dystrophic Epidermolysis Bullosa Hamid Galehdari, Gholamreza Mohammadian, Somayeh Azmoon,

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A Novel COL7A1 Gene Mutation in an Iranian Individual Suffering Dystrophic Epidermolysis Bullosa Hamid Galehdari, Gholamreza Mohammadian, Somayeh Azmoon, Bahaoddin Salehi, Mohammad Pedram The Journal of Molecular Diagnostics Volume 12, Issue 3, Pages 377-379 (May 2010) DOI: 10.2353/jmoldx.2010.090145 Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Patient exhibits blistering with scarring leading to pseudosyndactyly of the hands (A and B), which is a hallmark of the recessive form of DEB and fuses the digits into “mitten” hands and feet with severe loss of function. The Journal of Molecular Diagnostics 2010 12, 377-379DOI: (10.2353/jmoldx.2010.090145) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Partial sequence of exon 74 of the COL7A1 gene revealed a single cytosine deletion in a heterozygous mode in the parents (A) and homozygous mode in their affected daughter (B). This frameshift mutation at codon 2090 (C) creates a stop codon at codon 2116, which may cause a truncated gene product. The Journal of Molecular Diagnostics 2010 12, 377-379DOI: (10.2353/jmoldx.2010.090145) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions