The recurrent ~600 kb 16p11.2 deletion, defined by breakpoints 4 and 5 (BP4-BP5), is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD). Its population prevalence is ~ 1/2000, but in ASD it reaches 1/200.
Zufferey et al collected clinical data on 285 deletion carriers and performed detailed evaluations on 72 carriers and 68 intrafamilial non-carrier controls. When compared to intrafamilial controls, IQ is two standard deviations lower in carriers. Moreover, carriers have a frequent history psychiatric comorbidities (>80%) and speech therapy (83%). The penetrance of ASD is reported to be 15% based on the cohorts in this study.
Comparing quantitative traits in affected patients and their unaffected family members appears to be useful in the study of complex disorders such as psychiatric disease/ASD.
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Zufferey et al. J Med Genet. 2012 Oct;49(10):660-8. PMID: 23054248
Posted by Yannis Trakadis, MD