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Representative images
of neuronal rosettes from control samples and CAPRIN1+/- cells.
Two studies have shown that certain disorders of the CAPRIN1 gene have significant effects on
humans.
With exome analysis, scientists can observe which genes in the cell have changed, making these new insights possible
.
The team found 12 patients with
mutations in the CAPRIN1 gene.
In the second study, GeneMatcher was used to identify three children from different families who had a newly developed point mutation at a specific location of the CAPRIN1 gene: the exchange of amino acids at the
512 position from proline to leucine.
Professor Wirth, Director of the Institute of Human Genetics at Cologne University Hospital, said: "The new findings are important not only for affected patients and their families, who often spend years looking for answers to understand the cause of their disease, but also for doctors, who can now make faster and more accurate diagnoses
.
CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia
