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A rare homozygous missense mutation of COL7A1 in a Vietnamese family.


ABSTRACT: 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.

SUBMITTER: Duong NT 

PROVIDER: S-EPMC9113988 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature

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A rare homozygous missense mutation of COL7A1 in a Vietnamese family.

Duong Nguyen Thuy NT   Anh Luong Thi Lan LTL   Sau Nguyen Huu NH   Anh Nguyen Bao NB   Miyake Noriko N   Van Hai Nong N   Matsumoto Naomichi N  

Human genome variation 20220517 1


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 prenat  ...[more]

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