Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.

doi:10.1016/j.gim.2022.07.019

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Article

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2022

Leslie Joseph S, Hjeij Rim, Vivante Asaf, Bearce Elizabeth A, Dyer Laura, Wang Jiaolong, Rawlins Lettie, Kennedy Joanna, Ubeyratna Nishanka, Fasham James, Irons Zoe H, Craig Samuel B, Koenig Julia, George Sebastian, Pode-Shakked Ben, Bolkier Yoav, Barel Ortal, Mane Shrikant, Frederiksen Kathrine K, Wenger Olivia, Scott Ethan, Cross Harold E, Lorentzen Esben, Norris Dominic P, Anikster Yair, Omran Heymut, Grimes Daniel T, Crosby Andrew H, Baple Emma L

Abstract excerpt

PURPOSE: The clinical spectrum of motile ciliopathies includes laterality defects, hydrocephalus, and infertility as well as primary ciliary dyskinesia when impaired mucociliary clearance results in otosinopulmonary disease. Importantly, approximately 30% of patients with primary ciliary dyskinesia lack a genetic diagnosis. METHODS: Clinical, genomic, biochemical, and functional studies were performed alongside...

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PMID: 36074124
DOI: 10.1016/j.gim.2022.07.019
PMCID: PMC10584193

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