University of Leicester
Browse
Alsaadi_et_al-2014-Human_Mutation.pdf (351.42 kB)
Download file

Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia

Download (351.42 kB)
journal contribution
posted on 2016-02-24, 10:49 authored by MM Alsaadi, Abdullah Mesut Erzurumluoglu, S. Rodriguez, P. A. I. Guthrie, T. R. Gaunt, H. Z. Omar, M. Mubarak, K. K. Alharbi, A. C. Al-Rikabi, I. N. M. Day
Primary ciliary dyskinesia (PCD) is an autosomal-recessive disorder characterized by impaired ciliary function that leads to subsequent clinical phenotypes such as chronic sinopulmonary disease. PCD is also a genetically heterogeneous disorder with many single gene mutations leading to similar clinical phenotypes. Here, we present a novel PCD causal gene, coiled-coil domain containing 151 (CCDC151), which has been shown to be essential in motile cilia of many animals and other vertebrates but its effects in humans was not observed until currently. We observed a novel nonsense mutation in a homozygous state in the CCDC151 gene (NM_145045.4:c.925G>T:p.[E309*]) in a clinically diagnosed PCD patient from a consanguineous family of Arabic ancestry. The variant was absent in 238 randomly selected individuals indicating that the variant is rare and likely not to be a founder mutation. Our finding also shows that given prior knowledge from model organisms, even a single whole-exome sequence can be sufficient to discover a novel causal gene.

History

Citation

Human Mutation, 2014, 35 (12), pp. 1446-1448 (3)

Author affiliation

/Organisation/COLLEGE OF MEDICINE, BIOLOGICAL SCIENCES AND PSYCHOLOGY/School of Medicine/Department of Health Sciences

Version

  • VoR (Version of Record)

Published in

Human Mutation

Publisher

Wiley for Human Genome Variation Society

issn

1059-7794

eissn

1098-1004

Acceptance date

2014-09-04

Copyright date

2014

Available date

2016-02-24

Publisher version

http://onlinelibrary.wiley.com/doi/10.1002/humu.22698/abstract

Language

en

Usage metrics

    University of Leicester Publications

    Categories

    Licence

    Exports