A Homozygous Nonsense Mutation Identified in COL7A1 in a Family with Autosomal Recessive Dystrophic Epidermolysis Bullosa

    September 2024 in “ Journal of Medicine and Life ”
    Muhammad Ayub, Xing Xiong, Shamim Anwer, Janine Altmüller, Muhammad Naeem, Noor Hassan, Kafaitullah Khan, Susanne Motameny, Samira Khaliq, Fazal Ur Rehman, S. A. Uddin, Abdul Wali, Regina C. Betz, Sulman Basit
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    TLDR A specific gene mutation causes a severe skin disorder in a family.
    This study investigates a consanguineous four-generation family with two individuals affected by autosomal recessive dystrophic epidermolysis bullosa (RDEB), a severe inherited skin disorder. Whole exome sequencing identified a homozygous nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene in both patients, which was confirmed by Sanger sequencing and found to segregate within the family. The study highlights the importance of whole exome sequencing in diagnosing genetically heterogeneous diseases like RDEB and expands the known mutation spectrum of the COL7A1 gene in different populations.
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