GENETIC MARKERS ASSOCIATED WITH INTELLECTUAL DISABILITY

摘要

Genetic markers associated with intellectual disability as well as compositions, methods and kits for screening for genetic markers of intellectual disability, diagnosing intellectual disability and identifying individuals with a predisposition for offspring suffering from intellectual disability are provided.

主权项

1. A probe which detects a genetic marker for intellectual disability comprising a mutant NSUN2 gene or a mutant polypeptide encoded thereby, said mutant comprising a point mutation in exon 19 of the NSUN2 gene resulting in a missense mutation in the polypeptide encoded thereby, wherein said probe is detectably labeled or bound to a substrate.