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Article

Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing.

Acta dermato-venereologica - 30 Sept 2020

Uddin Syed Ashraf, Cesarato Nicole, Humbatova Aytaj, Schmidt Axel, urRehman Fazal, Naeem Muhammad, Tareen Abdul Samad, Wolf Sabrina, Panezai Muhammad Anwar, Thiele Holger, Wali Abdul, Fölster-Holst Regina, Basit Sulman, Ayub Muhammad, Betz Regina C

Abstract excerpt

Dystrophic epidermolysis bullosa is an inherited skin disorder characterized by fragile skin that is prone to blistering. We report here a consanguineous Pakistani family with two siblings, in whom a severe recessive dystrophic epidermolysis bullosa was suspected. Using whole-exome sequencing for one sibling, the homozygous base substitution c.7249C>G in COL7A1 was identified, and could be confirmed in the other...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32926178
DOI: 10.2340/00015555-3634
PMCID: PMC9235007

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Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing.PMID 32926178Read ↗

A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosaSemantic proximity Read ↗

Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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