Molecular characteristics

Inheritance of NEDESBA
NEDESBA is an autosomal recessive disorder, and this condition can be passed down from parent to child. Affected children inherit two copies of the gene mistake specifically in the TRAPPC4gene, one from each of their parents. The unaffected parents have one copy with the mistake and one normal copy, and usually do not have the disorder and are asymptomatic.

Children from different ethnic groups have precisely the same genetic coding mistake, with similar brain and physical problems. The majority of known NEDESBA individuals have the same genetic coding mistake.

TRAPPC4 gene mistakes
This gene mistake causes problems with processing of the TRAPPC4 gene, and there is not enough TRAPPC4 protein made for the brain cells to function properly.

The TRAPPC4 protein is critical for moving material around brain cells (“intracellular trafficking”) and for managing cellular recycling (“autophagy”).

Diagnostic testing
NEDESBA can be diagnosed by genetic testing to detect known TRAPPC4 gene mistakes. Genetic testing is suggested in children with microcephaly and neurodevelopmental regression. Genetic testing can be by targeted single gene sequencing, neurodevelopmental disorder multi-gene panels, whole genome sequencing and/or RNA sequencing.