Genotype–Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre
| Autor: | Sridhar Sivasubbu, Amit K. Dinda, Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Gomathy Sethuraman, Madhumita Roy Chowdhury, Vamsi K Yenamandra, Subrata Basu Ray, Ankit Verma, Vinod Sharma, Madhulika Kabra, Vinod Scaria |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Collagen Type VII Heredity Adolescent India wholeexomesequencing Genomics Dermatology 030105 genetics & heredity Tertiary Care Centers Young Adult 03 medical and health sciences symbols.namesake Mutation Rate Risk Factors Exome Sequencing medicine lcsh:Dermatology Humans Genetic Predisposition to Disease dystrophicEB Child Exome sequencing Genetics Sanger sequencing Massive parallel sequencing business.industry High-Throughput Nucleotide Sequencing General Medicine lcsh:RL1-803 medicine.disease collagenVII Epidermolysis Bullosa Dystrophica Pedigree genomic DNA Dystrophic epidermolysis bullosa Phenotype Child Preschool Mutation symbols Female Epidermolysis bullosa business Preliminary Data Reference genome |
| Zdroj: | Acta Dermato-Venereologica, Vol 98, Iss 9, Pp 873-879 (2018) |
| ISSN: | 1651-2057 0001-5555 |
| Popis: | Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing as a rapid and efficient diagnostic strategy in several genodermatoses. The aim of this study was to explore the potential of molecular studies in dystrophic epidermolysis bullosa (DEB) in India. Whole exome sequencing was performed using genomic DNA from each case of epidermolysis bullosa, followed by massively parallel sequencing. Resulting reads were mapped to the human reference genome hg19. Sanger sequencing subsequently confirmed the potentially pathogenic mutations. Whole exome sequencing of 18 patients with DEB from 17 unrelated Indian families revealed 20 distinct sequence variants in the COL7A1 gene including 2 widely prevalent mutations. Dominant inheritance was seen in 7 patients, while 11 patients showed a highly variable recessive DEB. This preliminary study using exome sequencing is clearly encouraging and will serve as the basis for future large-scale molecular studies to actively identify and understand DEB in the Indian population. |
| Databáze: | OpenAIRE |
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