Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy

Recessive dystrophic epidermolysis bullosa is a genetic collagen disorder characterized by skin fragility that leads to generalized severe blistering, wounds, and scarring. In this report, we present a patient with a novel COL7A1 homozygous nonsense variant, c.793C>T p.(Gln265*). Although the par...

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Bibliographic Details
Published in:Human genome variation 2023-11, Vol.10 (1), p.29-29, Article 29
Main Authors: Niida, Yo, Kobayashi, Azusa, Togi, Sumihito, Ura, Hiroki
Format: Article
Language:English
Subjects:
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Amino acids
Biomedical and Life Sciences
Biomedicine
Chromosomes
Collagen
Data Report
Dystrophic epidermolysis bullosa
Epidermolysis bullosa
Gene Expression
Gene Function
Gene Therapy
Genetic counseling
Genetic testing
Genomes
Human Genetics
Molecular Medicine
Polymorphism
Proteins
Single-nucleotide polymorphism
Skin
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Summary:Recessive dystrophic epidermolysis bullosa is a genetic collagen disorder characterized by skin fragility that leads to generalized severe blistering, wounds, and scarring. In this report, we present a patient with a novel COL7A1 homozygous nonsense variant, c.793C>T p.(Gln265*). Although the parents were not consanguineous, both were heterozygous carriers of the variant. Single nucleotide polymorphism (SNP) array analysis revealed an isodisomy area on 3p22.1p21.1, encompassing COL7A1 , suggesting that the variant originated from a common ancestor.
ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-023-00257-6