Journal article
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages
Journal of investigative dermatology, v 137(3), pp 660-669
01 Mar 2017
PMID: 27899325
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blistering, erosions, and chronic ulcers. COL7A1, encoding type VII collagen, has been identified as the candidate gene for dystrophic epidermolysis bullosa. In this study, we have identified COL7A1 mutations in a large multi-ethnic cohort of 152 extended Iranian families with high degree of consanguinity. The patients were diagnosed by clinical manifestations, histopathology, and immunoepitope mapping. Mutation detection consisted of a combination of single nucleotide polymorphism-based whole-genome homozygosity mapping, Sanger sequencing, and gene-targeted next-generation sequencing. A total of 104 distinct mutations in COL7A1 were identified in 149 of 152 families (98%), 56 (53%) of them being previously unreported. Ninety percent of these mutations were homozygous recessive, reflecting consanguinity in these families. Three recurrent mutations were identified in five or more families, and haplotype analysis suggested a founder effect in two of them. In conclusion, COL7A1 harbored mutations in the overwhelming majority of patients with dystrophic epidermolysis bullosa, and most of them in this Iranian cohort were consistent with autosomal recessive inheritance. The mutation profile attests to the impact of consanguinity in these families.
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Details
- Title
- Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages
- Creators
- Hassan Vahidnezhad - Thomas Jefferson UniversityLeila Youssefian - Thomas Jefferson UniversitySirous Zeinali - Pasteur Institute of IranAmir Hossein Saeidian - Thomas Jefferson UniversitySoheila Sotoudeh - Tehran University of Medical SciencesNikoo Mozafari - Shahid Beheshti University of Medical SciencesMaryam Abiri - Pasteur Institute of IranAbdol-Mohammad Kajbafzadeh - Univ Tehran Med Sci, Childrens Hosp Med Ctr, Dept Urol, Paediat Urol Res Ctr, Tehran, IranMohammadreza Barzegar - Shahid Beheshti University of Medical SciencesAdam Ertel - Sidney Kimmel Cancer CenterPaolo Fortina - Kimmel Cancer CenterJouni Uitto - Jefferson Institute
- Publication Details
- Journal of investigative dermatology, v 137(3), pp 660-669
- Publisher
- Elsevier
- Number of pages
- 10
- Grant note
- Institutional grant from the Sidney Kimmel Cancer Center of Thomas Jefferson University (PF,AE) DEBRA International (JU)
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- School of Biomedical Engineering, Science, and Health Systems
- Web of Science ID
- WOS:000394933600022
- Scopus ID
- 2-s2.0-85013978261
- Other Identifier
- 991019176797404721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Dermatology