Now that our initial study of the genotype/phenotype relationship has been published, albeit as “epub ahead of print” (http://www.ncbi.nlm.nih.gov/pubmed/25131214), we would like to move on to a more detailed analysis. This will involve:

a. recruiting additional subjects with CNVs (submicroscopic deletions or duplications) disrupting PTCHD1 or with nonsense or frameshifting mutations within the PTCHD1 coding region.

b. recruiting subjects with missense mutations within the PTCHD1 coding region.

c. recruiting subjects with CNVs spanning the region upstream of PTCHD1 (including the DDX53 gene, or exons of the lncRNA termed PTCHD1-AS1-3).

d. we would like to get detailed clinical information, including a videotaped neurological assessment, magnetic resonance imaging of the subject’s brain (if possible including DTI tracks), a full family history.

If you are a clinician or a parent of such a patient, and whom you think could participate in this study, for information regarding the study please contact either:

Dr. Melissa Carter (Hospital for Sick Children, Toronto; Tel (+1) 416 813-5340; melissa.carter@sickkids.ca)

or

Dr. John Vincent (Centre for Addiction & Mental Health, Toronto, Tel (+1) 416 535 8501 x36487; john.vincent@camh.ca)

or reply through the comments section on this post (non-confidential).