Novel missense COL2A1 variant in a fetus with achondrogenesis type II

Achondrogenesis type II (ACG2) is a lethal skeletal disorder caused by pathogenic variants in COL2A1. We present a fetus with cystic hygroma and severe shortening of the limbs at 14 weeks of gestation. We performed postnatal genetic analysis of the parents and fetus to diagnose the disease. A novel...

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Autores principales: Kobayashi, Yukari, Ito, Yuki, Taniguchi, Kosuke, Harada, Kana, Yamamura, Michihiro, Sato, Taisuke, Takahashi, Ken, Kawame, Hiroshi, Hata, Kenichiro, Samura, Osamu, Okamoto, Aikou
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/PMC9663423/
https://www.ncbi.nlm.nih.gov/pubmed/36376277
http://dx.doi.org/10.1038/s41439-022-00218-5
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author Kobayashi, Yukari
Ito, Yuki
Taniguchi, Kosuke
Harada, Kana
Yamamura, Michihiro
Sato, Taisuke
Takahashi, Ken
Kawame, Hiroshi
Hata, Kenichiro
Samura, Osamu
Okamoto, Aikou
author_facet Kobayashi, Yukari
Ito, Yuki
Taniguchi, Kosuke
Harada, Kana
Yamamura, Michihiro
Sato, Taisuke
Takahashi, Ken
Kawame, Hiroshi
Hata, Kenichiro
Samura, Osamu
Okamoto, Aikou
author_sort Kobayashi, Yukari
collection PubMed
description Achondrogenesis type II (ACG2) is a lethal skeletal disorder caused by pathogenic variants in COL2A1. We present a fetus with cystic hygroma and severe shortening of the limbs at 14 weeks of gestation. We performed postnatal genetic analysis of the parents and fetus to diagnose the disease. A novel missense variant of COL2A1 [NM_001844.5: c.2987G>A, (p. Gly996Asp)] was identified, which led to the ACG2 diagnosis.
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spelling pubmed-96634232022-11-15 Novel missense COL2A1 variant in a fetus with achondrogenesis type II Kobayashi, Yukari Ito, Yuki Taniguchi, Kosuke Harada, Kana Yamamura, Michihiro Sato, Taisuke Takahashi, Ken Kawame, Hiroshi Hata, Kenichiro Samura, Osamu Okamoto, Aikou Hum Genome Var Data Report Achondrogenesis type II (ACG2) is a lethal skeletal disorder caused by pathogenic variants in COL2A1. We present a fetus with cystic hygroma and severe shortening of the limbs at 14 weeks of gestation. We performed postnatal genetic analysis of the parents and fetus to diagnose the disease. A novel missense variant of COL2A1 [NM_001844.5: c.2987G>A, (p. Gly996Asp)] was identified, which led to the ACG2 diagnosis. Nature Publishing Group UK 2022-11-15 /pmc/articles/PMC9663423/ /pubmed/36376277 http://dx.doi.org/10.1038/s41439-022-00218-5 Text en © The Author(s) 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
Kobayashi, Yukari
Ito, Yuki
Taniguchi, Kosuke
Harada, Kana
Yamamura, Michihiro
Sato, Taisuke
Takahashi, Ken
Kawame, Hiroshi
Hata, Kenichiro
Samura, Osamu
Okamoto, Aikou
Novel missense COL2A1 variant in a fetus with achondrogenesis type II
title Novel missense COL2A1 variant in a fetus with achondrogenesis type II
title_full Novel missense COL2A1 variant in a fetus with achondrogenesis type II
title_fullStr Novel missense COL2A1 variant in a fetus with achondrogenesis type II
title_full_unstemmed Novel missense COL2A1 variant in a fetus with achondrogenesis type II
title_short Novel missense COL2A1 variant in a fetus with achondrogenesis type II
title_sort novel missense col2a1 variant in a fetus with achondrogenesis type ii
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9663423/
https://www.ncbi.nlm.nih.gov/pubmed/36376277
http://dx.doi.org/10.1038/s41439-022-00218-5
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