Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms

Ciliopathies are a group of diseases triggered by the dysfunction of primary and/or motile cilia, caused by mutations in various genes. Mutations of the X-linked OFD1 gene, which mostly influence primary cilia, cause several syndromic ciliopathies. We identified four novel OFD1 mutations in males with symptoms typical of motile cilia dysfunction (primary ciliary dyskinesia, PCD), but without severe neurological, skeletal or renal symptoms characteristic for the majority of OFD1-related syndromes. Our work indicates that C-terminal OFD1 truncations predominantly affect motile rather than primary cilia, and suggests that OFD1 exons 20-21 should be included in mutation screening in PCD. (By Dr. Zuzanna Bukowy-Bieryllo, https://jmg.bmj.com/content/early/2019/07/31/jmedgenet-2018-105918 )

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