An X-linked long non-coding RNA, <i>PTCHD1-AS</i>, and the core features of autism

Phenotype–genotype analysis Ethics statement This research involving human participants complies with all relevant ethical regulations, including obtaining informed consent from all participants through the recruitment sites. Ethical review and approval were obtained from The Hospital for Sick Children Research Ethics Board (REB 1000080561). ASD-associated genetic variants at the PTCHD1-PTCHD1-AS locus in ASD cohorts We analysed MSSNG, Simons Simplex Cohort and SPARK ASD WGS databases for genomic variants at the PTCHD1-PTCHD1-AS locus, with ethics approval and informed consent for the MSSNG database as previously described 4 , 51 . MSSNG cohorts contain family data with at least one child having a diagnosis of ASD. Rare microdeletion variants are defined as those less than 1 Mb in size and occur at a frequency of below 1% in control population cohorts. Variants meeting these criteria are then evaluated for ASD risk, and corresponding phenotype data are collected. Frequency impact of rare deletions across the PTCHD1-PTCHD1-AS locus We conducted a comparative analysis of the frequency of rare copy-number deletions (populational frequency less than 1%) overlapping the target exons on PTCHD1-AS , as well as PTCHD1 and DDX53 . …