Identification of a novel founder variant in DNAI2 cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula

Identification of a novel founder variant in DNAI2 cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula

Introduction: Primary ciliary dyskinesia (PCD) is caused by dysfunction of motile cilia resulting in insufficient mucociliary clearance of the lungs. The overall aim of this study is to identify disease causing genetic variants for PCD patients in the Kuwaiti population.Methods: A cohort of multiple...

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Bibliographic Details
Main Authors: Dalal A. Al-Mutairi, Basel H. Alsabah, Bashar A. Alkhaledi, Petra Pennekamp, Heymut Omran
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Genetics
Subjects:
primary ciliary dyskinesia
genetics of ciliopathy
DNAI2 gene
consanguinity
pulmonary disease
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1017280/full

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