These authors have contributed equally.
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D
Article first published online: 28 JUL 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 85, Issue 6, pages 568–572, June 2014
How to Cite
Shaheen, R., Al-Owain, M., Khan, A.O., Zaki, M.S., Hossni, H.A.A., Al-Tassan, R., Eyaid, W. and Alkuraya, F.S. (2014), Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. Clinical Genetics, 85: 568–572. doi: 10.1111/cge.12226
- Issue published online: 26 APR 2014
- Article first published online: 28 JUL 2013
- Accepted manuscript online: 6 JUL 2013 08:17AM EST
- Manuscript Revised: 2 JUL 2013
- Manuscript Accepted: 2 JUL 2013
- Manuscript Received: 22 MAY 2013
Arthrogryposis refers to congenital contracture in at least two different body parts. When distal joints are primarily involved, the term distal arthrogryposis (DA) is used. The recognition of clinically distinct subtypes of DA has proven very useful in mapping the disease genes for this genetically heterogeneous condition. DA5D is characterized by ocular involvement usually in the form of ptosis and incomitant strabismus, but extraocular manifestations have also been reported. In a multiplex consanguineous family with DA5D, we combined autozygosity mapping and exome sequencing to identify a novel mutation in ECEL1. This was followed by targeted sequencing of this gene in another two extended consanguineous family with the same phenotype, which revealed two additional novel homozygous mutations. Our results support the recent identification of mutations in ECEL1 as a disease gene in DA5D and expand the clinical and allelic spectrum of this condition.