A familial case of CAMK2B mutation with variable expressivity

Area of Science:

• Genetics
• Neuroscience
• Molecular Biology

Background:

• Variants in Calcium/calmodulin-dependent protein kinase II beta (CAMK2B) are linked to neurodevelopmental disorders and intellectual disability.
• Reported clinical manifestations include a wide spectrum of neurological and developmental issues.
• Phenotypic heterogeneity is a recognized characteristic of these disorders.

Observation:

• A child presented with a neurodevelopmental disorder attributed to a pathogenic CAMK2B variant.
• The affected child inherited the variant from their mother, who exhibited milder symptoms.
• A sibling with the same variant displayed less severe clinical features.

Findings:

• This case demonstrates that CAMK2B mutations can be inherited, not exclusively de novo.
• Intrafamilial variability in the expression of CAMK2B mutations is evident.
• The study expands the known clinical and genetic spectrum of CAMK2B-related disorders.

Implications:

• Understanding the inheritance patterns of CAMK2B variants is crucial for genetic counseling.
• Recognizing intrafamilial variability aids in predicting disease course and management.
• Further research into genotype-phenotype correlations in CAMK2B disorders is warranted.