CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

Title: CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
Creator: Voineagu, I.; Huang, L.; Field, M.; Gecz, J.; Geschwind, D.; Winden, K.; Lazaro, M.; Haan, E.; Nelson, J.; McGaughran, J.; Nguyen, L. S.; Friend, K.; Hackett, A.
Relation: Molecular Psychiatry Vol. 17, Issue 1, p. 4-7
Publisher Link: http://dx.doi.org/10.1038/mp.2011.95
Publisher: Nature Publishing Group
Resource Type: journal article
Date: 2012
Description: Letter to the Editor: X-linked intellectual disability (XLID), defined as clinical ID combined with a pedigree consistent with X-linked inheritance, is a genetically heterogeneous condition that affects more than 10% of males with ID. Currently there are at least 92 genes known to cause XLID,^1-3 yet a large proportion of XLID cases remain unexplained, as each of the XLID genes identified so far only accounts for a small fraction (<1%) of affected individuals. Given that about one third of mutations affect gene expression levels,⁴ we reasoned that transcriptome profiling of lymphoblast cell lines from XLID patients may highlight genes harboring disease-causing mutations and may be an efficient follow-up method for rare sequence variants of unknown functional significance.
Identifier: http://hdl.handle.net/1959.13/1308444
Identifier: uon:21646
Identifier: ISSN:1359-4184
Language: eng
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