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.

Details

Title
A rare homozygous missense mutation of COL7A1 in a Vietnamese family
Author
Duong, Nguyen Thuy 1 ; Anh, Luong Thi Lan 2 ; Sau, Nguyen Huu 3 ; Anh, Nguyen Bao 1 ; Miyake, Noriko 4 ; Van Hai, Nong 1   VIAFID ORCID Logo  ; Matsumoto, Naomichi 5 

1  Vietnam Academy of Science and Technology, Institute of Genome Research, Hanoi, Vietnam (GRID:grid.267849.6) (ISNI:0000 0001 2105 6888) 
2  Hanoi Medical University, Ministry of Health, Hanoi Medical University Hospital, Hanoi, Vietnam (GRID:grid.267849.6) 
3  Ministry of Health, Hanoi, Vietnam, Hanoi Medical University and National Hospital of Dermatology, Hanoi, Vietnam (GRID:grid.67122.30) 
4  National Center for Global Health and Medicine, National Research Institute, Tokyo, Japan (GRID:grid.45203.30) (ISNI:0000 0004 0489 0290) 
5  Yokohama City University Graduate School of Medicine, Yokohama, Japan (GRID:grid.268441.d) (ISNI:0000 0001 1033 6139) 
Pages
13
Publication year
2022
Publication date
2022
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-022-00192-y
ProQuest document ID
2665413930
Copyright
© The Author(s) 2022. corrected publication 2022. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.