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 tomogra-phy 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.