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

ABSTRACT: 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.

SUBMITTER: Niida Y

PROVIDER: S-EPMC10661991 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature

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

Niida Yo Y Kobayashi Azusa A Togi Sumihito S Ura Hiroki H

Human genome variation 20231120 1

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, suggestin ...[more]

PMID: 37985760

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