Table II.

Genomic regions and genes associated with both autism and schizophrenia

Chromosome	Gene(s)	Schizophrenia data	Autism data	Comment
22q11.2 (3 Mb hemizygous deletion)	> 50	Many studies + 4 cases COS, COS>AOS	30%PDD71	Nonspecific risk but both increased; 71
16p11.2	24	500kb duplication in 2% of NIMH COS cohort58	1% of 5 autism populations have microdeletion or duplication43, 48, 49	COS CNVs both inherited; one case has comorbid PDD58
2p16.3	NRXN1	MZ twins concordant for COS with deletion; affected sib pair with inherited deletion56, 58	Deletions, disruptions, and mutations identified in several cases48, 51, 52, 54, 72	Growing evidence for both autism and COS; different regions of gene affected
Xq28	MECP2	1 case reported with mutation73	Rett's gene; autism Increased	Strong data for autism
1q42	DISC1	Disrupted gene identified in single large multiplex pedigree; numerous association studies74	Single association study with same haplotypes reported for schizophrenia60	Strong evidence for schizophrenia
7q35-q36.1	CNTNAP 2	Deletions in 2 unrelated patients75	Linkage, association, and gene expression in autism 76, 77	Growing evidence in both schizophrenia and autism
7q22.1	RELN	Decreased mRNA in postmortem brain linkage70 & association with working memory78, 79	Many linkage, association, and functional studies 40, 80
2q31.1	GAD1 (encodes GAD67)	10 studies show decreased GAD67 in schizophrenia postmortem brain81; 2 studies show association82, 83	Protein reduced in postmortem brain84, 85; multiple studies report linkage in region

COS- Childhood Onset Schizophrenia, AOS – Adult Onset Schizophrenia, CNV – Copy Number Variation, MZ – Monozygous, mRNA – messenger RNA