• Internal medicine · Jan 2022

    Case Reports

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

    • Guofei Feng, Yifei Xu, Shun Saso, Hajime Sasano, Shigeto Kondoh, Hidetoshi Itani, Shimpei Gotoh, Mizuho Nagao, Makoto Ikejiri, Masaki Tanabe, and Kazuhiko Takeuchi.
    • Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Japan.
    • Intern. Med. 2022 Jan 1; 61 (18): 2765-2769.

    AbstractPrimary 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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