Targeted gene(s)/phenotype under study :
- Calcium/Calmodulin Dependent Protein Kinase II Alpha – CAMK2A (OMIM: 114078)
CAMK2A encodes one of the four subunits of Calcium/Calmodulin Dependent Protein Kinase II, a multisubunit serine/threonine kinase highly expressed in the brain with important roles in synaptic plasticity, learning and memory. Heterozygous CAMK2A variants cause autosomal dominant mental retardation-53 (OMIM #617798).
We have identified a heterozygous pathogenic missense CAMK2A variant in a 3-year-old girl with a complex neurodevelopmental disorder associated with global developmental delay, hypotonia, absent speech and epilepsy.
Published reports on CAMK2A-related neurodevelopmental disorder variants are exceptionally limited (Kury et al., 2017; Akita et al., 2018; Chia et al., 2018); therefore, the aim of this study is to collect clinical and molecular data on additional patients with rare CAMK2A variants. This will aid in expanding our current knowledge on this gene, further delineating associated phenotypes, and ultimately assisting in the clinical diagnosis and management of patients. The analysis could potentially lead to further functional studies.
Coordinating clinicians/researchers: Dr. George A. Tanteles
Clinical Genetics Clinic
The Cyprus Institute of Neurology and Genetics
Ayios Dometios 2371, Nicosia, Cyprus
Contact : email@example.com
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples : N
- Resampling of patients : N
- Linked to a translational/basic research project? Potential studies could be performed