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Lookup NU author(s): Laura Devlin, Miguel Barroso Gil, Ruxandra Neatu, Laura Powell, Dr Emanuela Molinari, Dr Ian Wilson, Professor Heather Cordell, Dr Eric OlingerORCiD, Dr Colin Miles, Professor John SayerORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.Ciliopathies may be classed as primary or motile depending on the underlying ciliary defect and are usually considered distinct clinical entities. Primary ciliopathies are associated with multisystem syndromes typically affecting the brain, kidney, and eye, as well as other organ systems such as the liver, skeleton, auditory system, and metabolism. Motile ciliopathies are a heterogenous group of disorders with defects in specialised motile ciliated tissues found within the lung, brain, and reproductive system, and are associated with primary ciliary dyskinesia, bronchiectasis, infertility and rarely hydrocephalus. Primary and motile cilia share defined core ultra-structures with an overlapping proteome, and human disease phenotypes can reflect both primary and motile ciliopathies. CEP164 encodes a centrosomal distal appendage protein vital for primary ciliogenesis. Human CEP164 mutations are typically described in patients with nephronophthisis-related primary ciliopathies but have also been implicated in motile ciliary dysfunction. Here we describe a patient with an atypical motile ciliopathy phenotype and biallelic CEP164 variants. This work provides further evidence that CEP164 mutations can contribute to both primary and motile ciliopathy syndromes, supporting their functional and clinical overlap, and informs the investigation and management of CEP164 ciliopathy patients.
Author(s): Devlin LA, Coles J, Jackson CL, Barroso-Gil M, Green B, Walker WT, Thomas NS, Thompson J, Rock SA, Neatu R, Powell L, Molinari E, Wilson IJ, Cordell HJ, Olinger E, Miles CG, Sayer JA, Wheway G, Lucas JS
Publication type: Article
Publication status: Published
Journal: Clinical Genetics
Year: 2022
Volume: 103
Issue: 3
Pages: 330-334
Print publication date: 01/03/2023
Online publication date: 23/10/2022
Acceptance date: 15/10/2022
Date deposited: 22/11/2022
ISSN (print): 0009-9163
ISSN (electronic): 1399-0004
Publisher: John Wiley and Sons Inc
URL: https://doi.org/10.1111/cge.14251
DOI: 10.1111/cge.14251
PubMed id: 36273371
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