CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
- PMID: 17646849
- DOI: 10.1038/sj.mp.4002049
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
Erratum in
- Mol Psychiatry. 2010 Nov;15(11):1121
Abstract
A homozygous mutation of the CNTNAP2 gene has been associated with a syndrome of focal epilepsy, mental retardation, language regression and other neuropsychiatric problems in children of the Old Order Amish community. Here we report genomic rearrangements resulting in haploinsufficiency of the CNTNAP2 gene in association with epilepsy and schizophrenia. Genomic deletions of varying sizes affecting the CNTNAP2 gene were identified in three non-related Caucasian patients. In contrast, we did not observe any dosage variation for this gene in 512 healthy controls. Moreover, this genomic region has not been identified as showing large-scale copy number variation. Our data thus confirm an association of CNTNAP2 to epilepsy outside the Old Order Amish population and suggest that dosage alteration of this gene may lead to a complex phenotype of schizophrenia, epilepsy and cognitive impairment.
Similar articles
-
Gene associated with seizures, autism, and hepatomegaly in an Amish girl.Pediatr Neurol. 2009 Apr;40(4):310-3. doi: 10.1016/j.pediatrneurol.2008.10.013. Pediatr Neurol. 2009. PMID: 19302947
-
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.Arch Neurol. 2012 Mar;69(3):322-30. doi: 10.1001/archneurol.2011.1999. Epub 2011 Nov 14. Arch Neurol. 2012. PMID: 22083797 Review.
-
Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders.PLoS Genet. 2018 Dec 26;14(12):e1007535. doi: 10.1371/journal.pgen.1007535. eCollection 2018 Dec. PLoS Genet. 2018. PMID: 30586385 Free PMC article.
-
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.N Engl J Med. 2006 Mar 30;354(13):1370-7. doi: 10.1056/NEJMoa052773. N Engl J Med. 2006. PMID: 16571880
-
Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia.Cytogenet Genome Res. 2011;135(3-4):228-40. doi: 10.1159/000334064. Epub 2011 Nov 12. Cytogenet Genome Res. 2011. PMID: 22085975 Review.
Cited by
-
The role of genetics in the etiology of schizophrenia.Psychiatr Clin North Am. 2010 Mar;33(1):35-66. doi: 10.1016/j.psc.2009.12.003. Psychiatr Clin North Am. 2010. PMID: 20159339 Free PMC article. Review.
-
Genetic overlap between autism, schizophrenia and bipolar disorder.Genome Med. 2009 Oct 30;1(10):102. doi: 10.1186/gm102. Genome Med. 2009. PMID: 19886976 Free PMC article.
-
Dissection of genetic associations with language-related traits in population-based cohorts.J Neurodev Disord. 2011 Dec;3(4):365-73. doi: 10.1007/s11689-011-9091-6. Epub 2011 Sep 6. J Neurodev Disord. 2011. PMID: 21894572 Free PMC article.
-
Dendritic structural plasticity and neuropsychiatric disease.Nat Rev Neurosci. 2018 Mar 16;19(4):215-234. doi: 10.1038/nrn.2018.16. Nat Rev Neurosci. 2018. PMID: 29545546 Free PMC article. Review.
-
Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?Mol Autism. 2013 Dec 1;4(1):47. doi: 10.1186/2040-2392-4-47. Mol Autism. 2013. PMID: 24289166 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
