A rare homozygous missense mutation of COL7A1 in a Vietnamese family

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

doi:10.1038/s41439-022-00192-y

A rare homozygous missense mutation of COL7A1 in a Vietnamese family

Hum Genome Var. 2022 May 17;9(1):13. doi: 10.1038/s41439-022-00192-y.

Authors

Nguyen Thuy Duong¹, Luong Thi Lan Anh², Nguyen Huu Sau³, Nguyen Bao Anh¹, Noriko Miyake⁴, Nong Van Hai¹, Naomichi Matsumoto⁵

Affiliations

¹ Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.
² Hanoi Medical University Hospital, Hanoi Medical University, Ministry of Health, Hanoi, Vietnam.
³ Hanoi Medical University and National Hospital of Dermatology, Ministry of Health, Hanoi, Vietnam, Hanoi, Vietnam.
⁴ National Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.
⁵ Yokohama City University Graduate School of Medicine, Yokohama, Japan. naomat@yokohama-cu.ac.jp.

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.