The cause of pontine tegmental cap dysplasia PTCD is unknown. To date, all reported cases have been sporadic with no family history of the condition. Researchers have suggested different processes that may lead to PTCD including:
A disorder of ciliaryproteins, structures that play a vital role in human development and everyday functioning
Impaired axonal guidance, part of neural development involving how neurons (nerve cells) send axons (nerve fibers) out to reach correct targets
More research is needed for the scientific community to form a consensus on the underlying cause or causes of PTCD.
Last updated: 5/24/2016
Is pontine tegmental cap dysplasia genetic?
No underlying genetic cause has currently been identified for pontine tegmental cap dysplasia (PTCD). All cases reported in the medical literature have been sporadic with no previous family history. A deletion of genetic material on chromosome 2 including the NPHP1gene was identified in one individual with PTCD. Mutations within the NPHP1 gene are associated with a number of similar disorders such as Joubert syndrome. While the authors of the case report of this individual concluded that the deletion was likely causative of PTCD, the lack of a similar deletion identified in other cases has caused other authors to suggest that the deletion might have been an incidental finding and might not be causative of PTCD. Genetic testing of a greater number of individuals with PTCD is needed to identify whether there is an underlying genetic cause.
If there is concern regarding a family history of PTCD, we suggest that you consult with a genetics professional.
Last updated: 5/23/2016
How can I find a genetics professional in my area?
Briguglio M, Pinelli L, Giordano L, et al. Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients. Orphanet J Rare Dis. 2011; 6:36. http://www.ncbi.nlm.nih.gov/pubmed/21651769.
B. Harding, A. Vossough, E. Goldberg, M. Santi. Pontine tegmental cap dysplasia: neuropathological confirmation of a rare clinical/radiological syndrome. Neuropathology and Applied Neurobiology. April 2016; 42(3):301-306. http://www.ncbi.nlm.nih.gov/pubmed/26331236.