A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

ABSTRACT:

Background

The recurrent ~600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders.

Objective

To define the medical, neuropsychological, and behavioural phenotypes in carriers of this deletion.

Methods

We collected clinical data on 285 deletion carriers and performed detailed evaluations on 72 carriers and 68 intrafamilial non-carrier controls.

Results

When compared to intrafamilial controls, full scale intelligence quotient (FSIQ) is two standard deviations lower in carriers, and there is no difference between carriers referred for neurodevelopmental disorders and carriers identified through cascade family testing. Verbal IQ (mean 74) is lower than non-verbal

SUBMITTER: Zufferey F 

PROVIDER: S-EPMC3494011 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature