We sequenced the entire coding region of PTCHD1 in 700 control individuals (M=531 F=169), and none of the missense changes identified from among the ASD and ID patient cohorts has been detected. Only two missense changes have been identified: P252L from amongst our controls, and N497K reported in the SNP database (rs35880456, in 1 out of 39 screened; NCBI) (14), both in females who were heterozygotes. Altogether, absence of PTCHD1 missense variants indicates that these variants are significantly enriched in the males with ASD (6/723 male ASD versus 0/531 male control: Fisher’s exact test: p =0.042) and may contribute to the phenotype.
