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Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome

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.

Publication metadata

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


DOI: 10.1111/cge.14251

PubMed id: 36273371


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Funder referenceFunder name
AAIR Charity. Grant Number: 1129698
Kidney Research UK. Grant Numbers: Paed_RP_001_20180925, ST_001_20171120
National Institute for Health Research. Grant Number: RfPB PB-PG-1215-20014 200470
Northern Counties Kidney Research Fund. Grant Number: 2019/01
NHS England
RfPB PB-PG-1215-20014 200470
Paed_RP_001_20180925Kidney Research UK (was National Kidney Research Fund)
ST_001_20171120Kidney Research UK (was National Kidney Research Fund)
Swiss National Science Foundation. Grant Number: P2ZHP3_195181 & P500PB_206851