A de novo paradigm for mental retardation. < /strong> < /h2>

(please note: & #8220;mental retardation& #8221; is out-of-date terminology; we now use the term & #8220;intellectual disability& #8221; ) < /p>

Original research article by L.E. Vissers¬ et al< /em> . (2010) . < /p>

Read the abstract here< /a> . < /p>

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 Ä ú de novo‚ Ä Ě < /em> ) and is likely causative of the patient‚ Ä ôs intellectual disability. < /p>