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

Duong, Nguyen Thuy; Anh, Luong Thi Lan; Sau, Nguyen Huu; Anh, Nguyen Bao; Miyake, Noriko; Van Hai, Nong; Matsumoto, Naomichi

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.

Human Genome Variation, 2022, Vol 9, Issue 1, p1

2054-345X

Academic Journal

10.1038/s41439-022-00192-y