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While abnormal signaling mediated through metabotropic glutamate receptor 5 ( mGluR5 ) is involved in the pathophysiology of Autism Spectrum Disorder (ASD), Fragile X Syndrome and Tuberous Sclerosis, the role of other  mGluR s and their associated signaling network genes in syndromic ASD is unknown. This study sought to determine whether  mGluR  Copy Number Variants (CNV’s) were overrepresented in children with syndromic ASD and if  mGluR  “second hit” confers additional risk for ASD in 22q11.2 Deletion Syndrome (22q11DS). To determine whether  mGluR  network CNV’S are enriched in syndromic ASD, we examined microarrays from children with ASD (n = 539). Patient categorization (syndromic vs nonsyndromic) was done via blinded medical chart review in  mGluR  positive and randomly selected  mGluR  negative cases. 11.5% of ASD had  mGluR  CNV’s vs. 3.2% in controls (p < 0.001). Syndromic ASD was more prevalent in children with  mGluR  CNVs (74% vs 16%, p < 0.001). A comparison cohort with 22q11DS (n = 25 with ASD, n = 50 without ASD), all haploinsufficient for mGluR network gene  RANBP1 , were evaluated for “second  mGluR  hits”. 20% with 22q11.2DS + ASD had “second hits” in  mGluR  network genes vs 2% in 22q11.2DS-ASD (p < 0.014). We propose that altered  RANBP1  expression may provide a mechanistic link for several seemingly unrelated genetic and environmental forms of ASD.

The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder