Gene/phenotype/disorder of interest
CAMK2B: Intellectual developmental disorder, autosomal dominant 54; MRD54 (OMIM #617799)
Abstract
Pathogenic heterozygous variants in the CAMK2B gene have been associated with autosomal-dominant intellectual disability 54 (MRD54), a rare neurodevelopmental disorder.
The associated phenotype is variable, but commonly includes global developmental delay/intellectual disability, often accompanied by muscular hypotonia, seizures/epilepsy, behavioral or movement abnormalities and microcephaly. Most reported disease-associated variants are de novo, although familial inheritance with variable expression has also been described. Less than 50 individuals with CAMK2B variants have been reported in the literature, so detailed phenotypic descriptions remain limited, We recently identified three adults (a mother and her two daughters) with a pathogenic CAMK2B variant.
With this call we are looking for additional cases with (likely) pathogenic variants, to further characterise the genetic and clinical spectrum of CAMK2B-related disorder.
Coordinating clinician
- Andreea Andrei; a.andrei@uke.de
- Theresia Herget; t.herget@uke.de
Institution
University Medical Center Hamburg (UKE), Hamburg-Eppendorf, Germany
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? N