Support for calcium channel gene defects in autism spectrum disorders

Table 3 Copy number variants encompassing associated SNPs

Channel/Gene symbol	SNP	Numbers of deletions/duplications^a	Relevant CNV phenotypes
Ca_v1.2	rs10848653	12/13	Autism, developmental delay, speech delay
CACNA1C	rs10848653	12/13	Autism, developmental delay, speech delay
Ca_v3.1	rs198538	3/3	Microcephaly, mental retardation/developmental delay
CACNA1G	rs198545	3/2	Microcephaly, Mental retardation/developmental delay
Ca_v3.3	rs5750860	0/10	Mental retardation/developmental delay
CACNA1I

^aReported from two consortia: ISCA (International Standards for Cytogenomic Arrays) reports pathogenic CNV and DECI (Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources) reports chromosomal imbalance in patients
(http://genome.ucsc.edu/cgibin/hgc?hgsid=290095779&c=chr12&o=565412&t=3707025&g=decipher&i=252381).

ISSN: 2040-2392