A de novo paradigm for mental retardation.

(please note: “mental retardation” is out-of-date terminology; we now use the term “intellectual disability”)

Original research article by L.E. Vissers et al. (2010).

Read the abstract here.

SYNGAP1 gene mutations are associated with intellectual disability (ID).  This report describes a how a SYNGAP1 mutation was identified in a patient through whole exome sequencing. This finding was not observed in either parent (this is called “de novo”) and is likely causative of the patient’s intellectual disability.