NEDLAAD
Researchers found that changes in one copy of the CAPRIN1 gene — such as mutations causing the gene to stop working properly or small deletions — can lead to a developmental disorder called NEDLAAD. Most cases happened by chance (de novo), although a few were inherited from parents with mild or no symptoms.
Interestingly, symptoms can vary between individuals, and language skills often improve with age, unlike other more progressive disorders.
Tests on patient cells showed that this gene changes lower the amount of CAPRIN1 protein by about half, which disrupts normal brain cell functions like communication between neurons, control of reactive oxygen species, and electrical signaling.
Researchers also found a few cases with different types of mutations (missense changes), some of which may interfere with the formation of stress granules — essential structures that help protect cells under stress.
CONDCAC
A condition called CONDCAC was found in three children with a specific mutation (Pro512Leu) in the CAPRIN1 gene.
These children developed serious symptoms starting in early childhood, including trouble walking, muscle weakness, loss of coordination (ataxia), cognitive decline, and shrinking of brain areas like the cerebellum. Over time, they needed wheelchairs or became bedridden.
This specific mutation causes the CAPRIN1 protein to misfold and form harmful clumps inside cells, trapping other important proteins. Scientists believe this leads to a toxic effect that damages the brain.
CONDCAC is extremely rare and so far linked only to this unique genetic change.
CAPRIN1