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Phase II genotype/phenotype study
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).
Welcome to PTCHD1-base
Welcome to PTCHD1-base. This website is aimed at researchers, clinicians, parents, and caregivers, with a view to providing useful information relating to PTCHD1 and its role in autism spectrum disorders, intellectual disability and other neurodevelopmental and behavioural conditions.
We hope to provide the most up-to-date research information, collating findings, the latest hypotheses as well as more speculative ideas from our own research efforts and around the globe.
While this site is a work in progress, I hope to add more information over the coming weeks, including results from our clinical study, with clinical findings from 20 families with deletions of part or all of PTCHD1 (N=17 families) or with coding mutations within the gene that lead to premature truncation of the protein (N=3 families). This paper was recently accepted for publication in the journal “Clinical Genetics”, and I will provide details of the paper and the results as soon as the publication embargo deadline has passed. This study will hopefully be the springboard for future, more in-depth clinical studies of PTCHD1 individuals.
cheers
John
John B. Vincent, Ph.D.
Head, Molecular Neuropsychiatry & Development Lab,
Senior Scientist, Centre for Addiction & Mental Health
Professor, University of Toronto
ptchd1-base.com 