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dc.contributor.authorKhan, Fehmida F
dc.contributor.authorKhan, Naima
dc.contributor.authorRehman, Sakina
dc.contributor.authorEjaz, Amir
dc.contributor.authorAli, Uzma
dc.contributor.authorErfan, Muhammad
dc.contributor.authorAhmed, Zubair M
dc.contributor.authorNaeem, Muhammad
dc.date.accessioned2021-05-27T19:37:34Z
dc.date.available2021-05-27T19:37:34Z
dc.date.issued2021-04-22
dc.identifier.urihttp://hdl.handle.net/10713/15822
dc.description.abstractEpidermolysis bullosa (EB) includes a group of rare gesnodermatoses that result in blistering and erosions of the skin and mucous membranes. Genetically, pathogenic variants in around 20 genes are known to alter the structural and functional integrity of intraepidermal adhesion and dermo-epidermal anchorage, leading to four different types of EB. Here we report the underlying genetic causes of EB phenotypes segregating in seven large consanguineous families, recruited from different regions of Pakistan. Whole exome sequencing, followed by segregation analysis of candidate variants through Sanger sequencing, identified eight pathogenic variants, including three novel (ITGB4: c.1285G>T, and c.3373G>A; PLEC: c.1828A>G) and five previously reported variants (COL7A1: c.6209G>A, and c.1573C>T; FERMT1: c.676insC; LAMA3: c.151insG; LAMB3: c.1705C>T). All identified variants were either absent or had very low frequencies in the control databases. Our in-silico analyses and 3-dimensional (3D) molecular modeling support the deleterious impact of these variants on the encoded proteins. Intriguingly, we report the first case of a recessively inherited form of rare EBS-Ogna associated with a homozygous variant in the PLEC gene. Our study highlights the clinical and genetic diversity of EB in the Pakistani population and expands the mutation spectrum of EB; it could also be useful for prenatal diagnosis and genetic counseling of the affected families.en_US
dc.description.urihttps://doi.org/10.3390/biom11050620en_US
dc.language.isoenen_US
dc.publisherMDPI AGen_US
dc.relation.ispartofBiomoleculesen_US
dc.subjectEBS-Ognaen_US
dc.subjectITGB4en_US
dc.subjectPLECen_US
dc.subjectepidermolysis bullosaen_US
dc.subjectwhole exome sequencingen_US
dc.titleIdentification and Computational Analysis of Novel Pathogenic Variants in Pakistani Families with Diverse Epidermolysis Bullosa Phenotypesen_US
dc.typeArticleen_US
dc.identifier.doi10.3390/biom11050620
dc.identifier.pmid33921969
dc.source.volume11
dc.source.issue5
dc.source.countryUnited States
dc.source.countrySwitzerland


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