Only a few patients with pathogenic variants in ARMC9 have currently been reported in the scientific literature. Therefore, the full clinical spectrum of the Joubert Syndrome 30 is still unknown, affecting the adequate management of the patients, prenatal diagnosis and preimplantation genetic testing. As more patients with ARMC9-related Joubert syndrome 30 are found and their causative mutations identified, our knowledge regarding the pathophysiology of disease, mechanism, phenotypic spectrum and genotype-phenotype correlations of the disorder will improve. We are working towards this and request support from other colleagues interested in these conditions.
The overall aim of our research is:
• To identify patients with pathogenic variants in ARMC9
• To characterize the phenotypic spectrum of Joubert syndrome 30
• To understand disease mechanism
For studies on ARMC9, we request:
• Clinical and genetic information
• Photographs and brain MRI for assessment of clinical variability
Instructions:
• 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 adalal@cdfd.org.in
• Send e-mail the consent form to adalal@cdfd.org.in
Ashwin Dalal, M.D. D.M
Head, Diagnostics Division
Centre for DNA Fingerprinting and Diagnostics,
Inner Ring Road, Uppal,
Hyderabad – 500039, India
E-mail: adalal@cdfd.org.in
Tel: +91-40-27216148
Fax: +91-40-27216006
Any additional questions or enquiries should be directed to shubharaophadke@gmail.com or anjanakar85@gmail.com
ARMC9