Universität zu Köln

Uddin, Syed Ashraf, Cesarato, Nicole, Humbatova, Aytaj, Schmidt, Axel, Ur Rehman, Fazal, Naeem, Muhammad, Wolf, Sabrina, Tareen, Abdul Samad, Panezai, Muhammad Anwar, Thiele, Holger ORCID: 0000-0002-0169-998X, Wali, Abdul, Foelster-Holst, Regina, Basit, Sulman ORCID: 0000-0003-4294-6825, Ayub, Muhammad and Betz, Regina C. (2020). Apparent Missense Mutation in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing. Acta Derm.-Venereol., 100. UPPSALA: ACTA DERMATO-VENEREOLOGICA. ISSN 1651-2057

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Abstract

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 sibling by Sanger sequencing. In our exome data, this mutation was annotated as a missense substitution (p.Gln2417Glu), but in silico tools indicated a possible effect on splicing. Using the ExonTrap vector it was verified that the mutation leads to activation of a cryptic donor splice site, which leads to loss of 26 nucleotides, and a frameshift event predicted to result in a truncated protein (p.Q2417Sfs*57). The present report describes an apparent COL7A1 missense substitution with an unexpected consequence on splicing that leads to a severe recessive dystrophic epidermolysis bullosa phenotype.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Uddin, Syed Ashraf UNSPECIFIED UNSPECIFIED UNSPECIFIED Cesarato, Nicole UNSPECIFIED UNSPECIFIED UNSPECIFIED Humbatova, Aytaj UNSPECIFIED UNSPECIFIED UNSPECIFIED Schmidt, Axel UNSPECIFIED UNSPECIFIED UNSPECIFIED Ur Rehman, Fazal UNSPECIFIED UNSPECIFIED UNSPECIFIED Naeem, Muhammad UNSPECIFIED UNSPECIFIED UNSPECIFIED Wolf, Sabrina UNSPECIFIED UNSPECIFIED UNSPECIFIED Tareen, Abdul Samad UNSPECIFIED UNSPECIFIED UNSPECIFIED Panezai, Muhammad Anwar UNSPECIFIED UNSPECIFIED UNSPECIFIED Thiele, Holger UNSPECIFIED orcid.org/0000-0002-0169-998X UNSPECIFIED Wali, Abdul UNSPECIFIED UNSPECIFIED UNSPECIFIED Foelster-Holst, Regina UNSPECIFIED UNSPECIFIED UNSPECIFIED Basit, Sulman UNSPECIFIED orcid.org/0000-0003-4294-6825 UNSPECIFIED Ayub, Muhammad UNSPECIFIED UNSPECIFIED UNSPECIFIED Betz, Regina C. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-320175
DOI:	10.2340/00015555-3634
Journal or Publication Title:	Acta Derm.-Venereol.
Volume:	100
Date:	2020
Publisher:	ACTA DERMATO-VENEREOLOGICA
Place of Publication:	UPPSALA
ISSN:	1651-2057
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language GENOTYPE-PHENOTYPE CORRELATION; VII COLLAGEN; GENE; IDENTIFICATION; DIAGNOSIS; SEQUENCE Multiple languages Dermatology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/32017