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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Detalles Bibliográficos
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
Descripción
Sumario: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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