A rare homozygous missense mutation of COL7A1 in a Vietnamese family.
Nguyen Thuy DuongLuong Thi Lan AnhNguyen Huu SauNguyen Bao AnhNoriko MiyakeNong Van HaiNaomichi MatsumotoPublished in: Human genome variation (2022)
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.