Only a few patients with mutations in HERC1 have currently been reported in the scientific literature. Therefore, the full clinical spectrum of the syndrome is still unknown, hampering the counseling of families and optimal management of the patients. As more patients with HERC1 related MDFPMR are found and their causative mutations identified, our knowledge regarding the pathophysiology, phenotypic spectrum and genotype-phenotype correlations of this disorder will improve. We are working towards this and request support from other colleagues interested in this condition.
The overall aims of our research are:
• To identify additional patients with mutations in HERC1.
• To characterize the clinical spectrum of the syndrome.
• To provide insights into the pathogenic mechanism of HERC1-related intellectual disability.
Besides clinical studies we are developing:
• RNA expression studies.
• Function of the mutated HERC1 protein.
For the clinical studies we request (1) clinical and genetic information and/or (2) photographs to obtain a better insight into the clinical variability of HERC1 mutations. Clinicians and researchers can submit clinical data directly into the database.
Instructions for the clinician involved:
• Please request written consent for the use and storage of medical information with or without photographs.
• Enter the clinical information using the submission interface.
• E-mail photographs to email@example.com.
• Send, e-mail or fax the consent form to firstname.lastname@example.org.
Ashwin Dalal, M.D., D.M.
Head, Diagnostics Division,
Centre for DNA Fingerprinting and Diagnostics,
Inner Ring Road, Uppal,
Hyderabad- 500039, India
Any additional questions or enquiries should be directed to email@example.com.