A novel FLNA variant in a fetus with skeletal dysplasia

Otopalatodigital spectrum disorder (OPDSD) is characterized by variable phenotypes, including skeletal dysplasia, and is caused by pathogenic variants in filamin A-encoding FLNA. FLNA variants associated with lethal OPDSD primarily alter the CH2 subdomain of the ABD of FLNA. Herein, we report a nove...

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Autores principales: Oshina, Kyoko, Kamei, Yoshimasa, Hori, Asuka, Hasegawa, Fuyuki, Taniguchi, Kosuke, Migita, Ohsuke, Itakura, Atsuo, Hata, Kenichiro
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/PMC9744731/
https://www.ncbi.nlm.nih.gov/pubmed/36509760
http://dx.doi.org/10.1038/s41439-022-00224-7
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author Oshina, Kyoko
Kamei, Yoshimasa
Hori, Asuka
Hasegawa, Fuyuki
Taniguchi, Kosuke
Migita, Ohsuke
Itakura, Atsuo
Hata, Kenichiro
author_facet Oshina, Kyoko
Kamei, Yoshimasa
Hori, Asuka
Hasegawa, Fuyuki
Taniguchi, Kosuke
Migita, Ohsuke
Itakura, Atsuo
Hata, Kenichiro
author_sort Oshina, Kyoko
collection PubMed
description Otopalatodigital spectrum disorder (OPDSD) is characterized by variable phenotypes, including skeletal dysplasia, and is caused by pathogenic variants in filamin A-encoding FLNA. FLNA variants associated with lethal OPDSD primarily alter the CH2 subdomain of the ABD of FLNA. Herein, we report a novel FLNA mutation in a fetus with severe skeletal dysplasia in a pregnant multigravida female with a history of repeated miscarriages and terminations.
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spelling pubmed-97447312022-12-14 A novel FLNA variant in a fetus with skeletal dysplasia Oshina, Kyoko Kamei, Yoshimasa Hori, Asuka Hasegawa, Fuyuki Taniguchi, Kosuke Migita, Ohsuke Itakura, Atsuo Hata, Kenichiro Hum Genome Var Data Report Otopalatodigital spectrum disorder (OPDSD) is characterized by variable phenotypes, including skeletal dysplasia, and is caused by pathogenic variants in filamin A-encoding FLNA. FLNA variants associated with lethal OPDSD primarily alter the CH2 subdomain of the ABD of FLNA. Herein, we report a novel FLNA mutation in a fetus with severe skeletal dysplasia in a pregnant multigravida female with a history of repeated miscarriages and terminations. Nature Publishing Group UK 2022-12-13 /pmc/articles/PMC9744731/ /pubmed/36509760 http://dx.doi.org/10.1038/s41439-022-00224-7 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
Oshina, Kyoko
Kamei, Yoshimasa
Hori, Asuka
Hasegawa, Fuyuki
Taniguchi, Kosuke
Migita, Ohsuke
Itakura, Atsuo
Hata, Kenichiro
A novel FLNA variant in a fetus with skeletal dysplasia
title A novel FLNA variant in a fetus with skeletal dysplasia
title_full A novel FLNA variant in a fetus with skeletal dysplasia
title_fullStr A novel FLNA variant in a fetus with skeletal dysplasia
title_full_unstemmed A novel FLNA variant in a fetus with skeletal dysplasia
title_short A novel FLNA variant in a fetus with skeletal dysplasia
title_sort novel flna variant in a fetus with skeletal dysplasia
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9744731/
https://www.ncbi.nlm.nih.gov/pubmed/36509760
http://dx.doi.org/10.1038/s41439-022-00224-7
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