Reporting COL7A1 gene mutations in five Iranian families with Dystrophic Epidermolysis Bollusa

Maryam Taghdiri; Sirous  Naeimi; Majid Fardaei; Mohammad Bagher Tabei

doi:10.22541/au.158630033.34004066

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Reporting COL7A1 gene mutations in five Iranian families with Dystrophic Epidermolysis Bollusa

Maryam Taghdiri,
Sirous Naeimi,
Majid Fardaei,
Mohammad Bagher Tabei

Abstract

Dystrophic epidermolysis bullosa (DEB) is a inherited blistering disorder, characterized by affected dermis-epidermis conjunction. COL7A1 encodes collagen VII protein, which is responsible for dermis-epidermis conjunction. We report several mutations of COL7A1 in Iranian families, which result in DEB and expands the mutation spectrum of COL7A1 mutations for further molecular studies