Two Distinct Disorders Resulting From Mutations in One Gene

Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders

Mutations in a given gene are usually associated with a single genetic disorder. Combined analysis of published case reports and data from CENTOGENE’s uniquely large database revealed that the NTRK2 gene is a rare exception by being associated with two distinct disorders. The finding was published in Genetics in Medicine, a leading journal in the field.