A rare homozygous missense mutation of COL7A1 in a Vietnamese family

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 termin...

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Autores principales: Duong, Nguyen Thuy, Anh, Luong Thi Lan, Sau, Nguyen Huu, Anh, Nguyen Bao, Miyake, Noriko, Van Hai, Nong, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9113988/
https://www.ncbi.nlm.nih.gov/pubmed/35581191
http://dx.doi.org/10.1038/s41439-022-00192-y
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author Duong, Nguyen Thuy
Anh, Luong Thi Lan
Sau, Nguyen Huu
Anh, Nguyen Bao
Miyake, Noriko
Van Hai, Nong
Matsumoto, Naomichi
author_facet Duong, Nguyen Thuy
Anh, Luong Thi Lan
Sau, Nguyen Huu
Anh, Nguyen Bao
Miyake, Noriko
Van Hai, Nong
Matsumoto, Naomichi
author_sort Duong, Nguyen Thuy
collection PubMed
description 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.
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spelling pubmed-91139882022-05-19 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 Hum Genome Var Data Report 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. Nature Publishing Group UK 2022-05-17 /pmc/articles/PMC9113988/ /pubmed/35581191 http://dx.doi.org/10.1038/s41439-022-00192-y Text en © The Author(s) 2022, corrected publication 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Duong, Nguyen Thuy
Anh, Luong Thi Lan
Sau, Nguyen Huu
Anh, Nguyen Bao
Miyake, Noriko
Van Hai, Nong
Matsumoto, Naomichi
A rare homozygous missense mutation of COL7A1 in a Vietnamese family
title A rare homozygous missense mutation of COL7A1 in a Vietnamese family
title_full A rare homozygous missense mutation of COL7A1 in a Vietnamese family
title_fullStr A rare homozygous missense mutation of COL7A1 in a Vietnamese family
title_full_unstemmed A rare homozygous missense mutation of COL7A1 in a Vietnamese family
title_short A rare homozygous missense mutation of COL7A1 in a Vietnamese family
title_sort rare homozygous missense mutation of col7a1 in a vietnamese family
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9113988/
https://www.ncbi.nlm.nih.gov/pubmed/35581191
http://dx.doi.org/10.1038/s41439-022-00192-y
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