A rare homozygous missense mutation of COL7A1 in a Vietnamese family

We present a homozygous missense mutation in the COL7A1 gene (NM_000094.4: c.6262G>A, p.G2088R) in a case of inversa recessive dystrophic epidermolysis bullosa (RDEB-I) from a nonconsanguineous Vietnamese family. Although a heterozygous form of this mutation in combination with a premature termin...

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Bibliographic Details
Published in:Human genome variation 2022-05, Vol.9 (1), p.13-13, Article 13
Main Authors: Duong, Nguyen Thuy, Anh, Luong Thi Lan, Sau, Nguyen Huu, Anh, Nguyen Bao, Miyake, Noriko, Van Hai, Nong, Matsumoto, Naomichi
Format: Article
Language:English
Subjects:
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631/337
Biomedical and Life Sciences
Biomedicine
Collagen (type VII)
Data Report
Dystrophic epidermolysis bullosa
Epidermolysis bullosa
Etiology
Gene Expression
Gene Function
Gene Therapy
Genetic counseling
Human Genetics
Missense mutation
Molecular Medicine
Mutation
Nonsense mutation
Prenatal diagnosis
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Summary:We present a homozygous missense mutation in the COL7A1 gene (NM_000094.4: c.6262G>A, p.G2088R) in a case of inversa recessive dystrophic epidermolysis bullosa (RDEB-I) from a nonconsanguineous Vietnamese family. Although a heterozygous form of this mutation in combination with a premature termination codon allele has been shown to cause RDEB-I, this is the first report of homozygosity of this mutation as the etiology. Here, we investigated the molecular basis of the patient’s disease for prenatal diagnosis after genetic counseling of the parents.
ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-022-00192-y