Rare bi-allelic loss-of-function variants in the LRRK2 kinase cause interstitial lung disease
Tuğba Kalaycı, Kathryn A. Wikenheiser‐Brokamp, Sara Gomes, Eshaan S. Rawat, Anna L. Peljto, Anthea Cheung, Sevinç Çitak, Mustafa Vayvada, Ángeles Montero, Nesrin Moğulkoç, N. Gulfer Okumus, İlknur Süer, Joseph A. Kitzmiller, Cheng-Lun Na, Xinyuan Li, , Esther M. Sammler
This study identifies biallelic LRRK2 loss-of-function variants as a cause of interstitial lung disease, showing reduced LRRK2 protein and impaired lung function in affected individuals.
medRxiv · May 19, 2026 · PreprintGenetic & Genomic Medicine