Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?
Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?
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.
8-9
Barber, John C.K.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Sharp, Andrew J.
4f814cb9-0069-4850-ad81-5ad57435f414
Hollox, Edward J.
a07bae66-67dc-4c2c-a655-500ee79f081b
Tyson, Christine
58b11f2c-c09a-4a59-93d9-cc2ec31977cc
Barber, John C.K.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Sharp, Andrew J.
4f814cb9-0069-4850-ad81-5ad57435f414
Hollox, Edward J.
a07bae66-67dc-4c2c-a655-500ee79f081b
Tyson, Christine
58b11f2c-c09a-4a59-93d9-cc2ec31977cc
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), .
(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.
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Barber et al 20114-16 EJHGR manuscript
- Accepted Manuscript
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Supplementary Figure 2
- Accepted Manuscript
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Supplementary Figure 1
- Accepted Manuscript
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Accepted/In Press date: 5 July 2016
e-pub ahead of print date: 3 August 2016
Organisations:
Human Development & Health
Identifiers
Local EPrints ID: 397948
URI: http://eprints.soton.ac.uk/id/eprint/397948
ISSN: 1018-4813
PURE UUID: efb771f0-cf43-491e-92a3-8f0c36eeb7d8
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Date deposited: 13 Jul 2016 08:52
Last modified: 09 Jan 2022 06:34
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Contributors
Author:
John C.K. Barber
Author:
Andrew J. Sharp
Author:
Edward J. Hollox
Author:
Christine Tyson
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