Non-familial cases of intellectual disability could be linked to de novo genetic mutations: studies suggest the potential of exome sequencing to diagnose causes of severe cases.

摘要

Two new studies underscore the importance of de novo mutations in non-syndromic intellectual disability, while highlighting the potential of exome sequencing to diagnose causes of severe intellectual disability that can't be explained by other genetic tests. Medical geneticists see many children with intellectual disability in their clinics, but detect a genetic diagnosis in only a minority of these patients and families. Caring for these youngsters is difficult, and parents are often hesitant to have more children. A diagnosis helps parents with healthcare and family planning, say clinicians and researchers who specialize in intellectual disability.