A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare hereditary disease. We herein report two sisters in their 20s with suspected PCD. They were both born at full term and did not have situs inversus. Chest computed tomography showed similar signs of bronchiectasis in both siblings. Genetic examinations of th...

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Autores principales: Feng, Guofei, Xu, Yifei, Saso, Shun, Sasano, Hajime, Kondoh, Shigeto, Itani, Hidetoshi, Gotoh, Shimpei, Nagao, Mizuho, Ikejiri, Makoto, Tanabe, Masaki, Takeuchi, Kazuhiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9556235/
https://www.ncbi.nlm.nih.gov/pubmed/36104176
http://dx.doi.org/10.2169/internalmedicine.8884-21
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author Feng, Guofei
Xu, Yifei
Saso, Shun
Sasano, Hajime
Kondoh, Shigeto
Itani, Hidetoshi
Gotoh, Shimpei
Nagao, Mizuho
Ikejiri, Makoto
Tanabe, Masaki
Takeuchi, Kazuhiko
author_facet Feng, Guofei
Xu, Yifei
Saso, Shun
Sasano, Hajime
Kondoh, Shigeto
Itani, Hidetoshi
Gotoh, Shimpei
Nagao, Mizuho
Ikejiri, Makoto
Tanabe, Masaki
Takeuchi, Kazuhiko
author_sort Feng, Guofei
collection PubMed
description Primary ciliary dyskinesia (PCD) is a rare hereditary disease. We herein report two sisters in their 20s with suspected PCD. They were both born at full term and did not have situs inversus. Chest computed tomography showed similar signs of bronchiectasis in both siblings. Genetic examinations of the family confirmed that the sisters both harbored a homozygous variant in the growth-arrest-specific 2-like 2 (GAS2L2) gene. This is the third report of a family with PCD caused by a GAS2L2 variant.
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spelling pubmed-95562352022-10-27 A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia Feng, Guofei Xu, Yifei Saso, Shun Sasano, Hajime Kondoh, Shigeto Itani, Hidetoshi Gotoh, Shimpei Nagao, Mizuho Ikejiri, Makoto Tanabe, Masaki Takeuchi, Kazuhiko Intern Med Case Report Primary ciliary dyskinesia (PCD) is a rare hereditary disease. We herein report two sisters in their 20s with suspected PCD. They were both born at full term and did not have situs inversus. Chest computed tomography showed similar signs of bronchiectasis in both siblings. Genetic examinations of the family confirmed that the sisters both harbored a homozygous variant in the growth-arrest-specific 2-like 2 (GAS2L2) gene. This is the third report of a family with PCD caused by a GAS2L2 variant. The Japanese Society of Internal Medicine 2022-09-15 2022-09-15 /pmc/articles/PMC9556235/ /pubmed/36104176 http://dx.doi.org/10.2169/internalmedicine.8884-21 Text en Copyright © 2022 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Feng, Guofei
Xu, Yifei
Saso, Shun
Sasano, Hajime
Kondoh, Shigeto
Itani, Hidetoshi
Gotoh, Shimpei
Nagao, Mizuho
Ikejiri, Makoto
Tanabe, Masaki
Takeuchi, Kazuhiko
A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia
title A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia
title_full A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia
title_fullStr A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia
title_full_unstemmed A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia
title_short A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia
title_sort novel homozygous variant in gas2l2 in two sisters with primary ciliary dyskinesia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9556235/
https://www.ncbi.nlm.nih.gov/pubmed/36104176
http://dx.doi.org/10.2169/internalmedicine.8884-21
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