23375656 |
Girirajan S et al., 2013.
They designed a microarray, and performed on 2,588 autistic individuals from simplex and multiplex families and in 580 controls. They identified several recurrent large hotspot events, and also smaller atypical CNVs. CTNAA3 is not within the hotspots, but in the genomic backbone, which is also covered by their microarray. They performed targeted discovery of CNVs affecting known autism candidate genes (n=430 genes), including genes reported in recent studies as well as those curated in autism databases. There were 60 candidate genes enriched for exon-disrupting CNVs in ASD cases versus controls, and CTNNA3 was one of them. There were 22 ASD patients with CNVs in CTNNA3, 21 were deletions (1 de novo, 20 inherited), and 1 was duplication. However, they didn?t mention if these CNVs in CTNNA3 were the only genetic change in those individuals. |
21658582 |
Levy D et al., 2011. They did genome wide CGH on ASD patients, and data raise the suspicion for USP7, CTNNA3, and genes encoding several related voltage-gated calcium channels. Deletions of CTNNA3 were detected in four different ASD patients, and one patient with ID, ASD, and EP. All of these 4 deletions were inherited. |
20427753 |
PMID: 20427753
Sundaram SK et. al., 2010. A deletion containing CTNNA3 was recurrent in two Tourette syndrome (TS) patients. Tourette syndrome is a neurobehavioral disorder manifest particularly by motor and vocal tics and associated with behavioral abnormalities (OMIM 137580). Both of the deletions were inherited.
PMID: 19546859
Elia J et al., 2010. Identified 222 inherited CNVs within 335 Attention-deficit/hyperactivity disorder (ADHD) patients. CTNNA3 was one of the genes significantly enriched in ADHD CNV deletions using Gene Ontology (GO) analysis.
Intronic deletions:
PMID: 22738016
Lesca G et. al., 2012 did aCGH in 61 patients with slow?wave sleep syndrome (CSWSS) and the Landau?Kleffner (LKS) syndrome which are two rare epileptic encephalopathies. In one of the patients, a de novo intronic deletion was detected in CTNNA3 gene. Another patient had an inherited partial deletion of CTNNA3. A third patient had an inherited intronic deletion in CTNNA3 gene which was previously reported.
PMID: 20531469
Pinto D et al., 2010. They analyzed the genome-wide characteristics of rare (<1% frequency) copy number variation using dense genotyping arrays, on 996 ASD individuals of European ancestry to 1,287 matched controls. Among the 9 deletions in CTNNA3 detected in 9 different patients, 6 were intronic deletions, 3 were exonic ones. However, 2 out of the 3 exonic deletions were absent in affected sibling of the patients. |
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