Cellular basis for genetic susceptibility to neurodevelopmental disorders
In contrast to syndromic CNVs such as the 17p11.2 deletion in Smith-Magenis syndrome, which mostly occur de novo and are highly penetrant, more recent studies have identified another class of CNVs that are frequently inherited and associated with variable expressivity. We previously identified a 520-kb deletion on chromosome 16p12.1 that was associated with multiple neurodevelopmental outcomes, including intellectual disability/developmental delay (ID/DD), schizophrenia, autism, and epilepsy. This variant is inherited in >95% of cases from carrier parents manifesting neuropsychiatric features. We also found that affected children with the deletion were more likely to carry another large CNV or rare deleterious mutation elsewhere in the genome compared to carrier parents. Thus, while the... (for more see dbGaP study page.)