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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Detalles Bibliográficos
Autores principales: Duong, Nguyen Thuy, Anh, Luong Thi Lan, Sau, Nguyen Huu, Anh, Nguyen Bao, Miyake, Noriko, Van Hai, Nong, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9113988/
https://www.ncbi.nlm.nih.gov/pubmed/35581191
http://dx.doi.org/10.1038/s41439-022-00192-y
Descripción
Sumario: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.

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