Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.

ABSTRACT: Primary ciliary dyskinesia (PCD) is a genetic disorder in which impaired ciliary function leads to chronic airway disease. Exome sequencing of a PCD subject identified an apparent homozygous frameshift variant, c.887_890delTAAG (p.Val296Glyfs^∗13), in exon 5; this frameshift introduces a stop codon in amino acid 308 of the growth arrest-specific protein 2-like 2 (GAS2L2). Further genetic screening of unrelated PCD subjects identified a second proband with a compound heterozygous variant carrying the identical frameshift variant and a large deletion (c.867_^∗343+1207del; p.?) starting in exon 5. Both individuals had clinical features of PCD but normal ciliary axoneme structure. In this research, using human nasal cells, mouse models, and X.laevis embryos, we show that GA

SUBMITTER: Bustamante-Marin XM 

PROVIDER: S-EPMC6372263 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature