Barber, John C.K., Sharp, Andrew J., Hollox, Edward J. and Tyson, Christine (2016) Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor? European Journal of Human Genetics, 25 (1), 8-9. (doi:10.1038/ejhg.2016.104).
Abstract
Relatively little is known about the function of the RNA exonuclease 1 homologue (Saccharomyces cerevisiae)-like 1 gene (REXO1L1) in humans and only two titles in PubMed contain the REXO1L1 acronym. Evidence published in this journal indicated that copy number variation (CNV) of the REXO1L1 gene and pseudogene cluster was common and likely to be benign.1 In contrast, it has been proposed that de novo heterozygous deletion of the REXO1L1 cluster in a single patient is responsible for a new microdeletion syndrome including dysmorphic features, cleft palate, incomplete spina bifida, dyspraxia, global developmental delay, growth retardation and gastrointestinal malabsorption.2 Here we argue that determining the possible clinical significance of large-scale CNV requires the application of accurate quantitative techniques to both individual families and large cohorts of affected and unaffected individuals.
More information
Identifiers
Catalogue record
Export record
Altmetrics
Contributors
University divisions
- Faculties (pre 2018 reorg) > Faculty of Medicine (pre 2018 reorg) > Human Development & Health (pre 2018 reorg)
Current Faculties > Faculty of Medicine > Human Development and Health > Human Development & Health (pre 2018 reorg)
Human Development and Health > Human Development & Health (pre 2018 reorg) - Current Faculties > Faculty of Medicine > Human Development and Health
Human Development and Health
Download statistics
Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.