Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre.
Acta Derm Venereol
; 98(9): 873-879, 2018 Oct 10.
Article
en En
| MEDLINE
| ID: mdl-29963685
ABSTRACT
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.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Epidermólisis Ampollosa Distrófica
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Colágeno Tipo VII
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Centros de Atención Terciaria
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Mutación
Tipo de estudio:
Diagnostic_studies
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Etiology_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Acta Derm Venereol
Año:
2018
Tipo del documento:
Article
País de afiliación:
India