Sentences with phrase «novo missense»

In these analyses, we identify and subsequently analyze a set of 107 autosomal genes with a false discovery rate (FDR) of < 30 %; in total, this larger set of genes harbor de novo loss of function (LoF) mutations in 5 % of cases, and numerous de novo missense and inherited LoF mutations in additional cases.

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.

Not exact matches

However, not every mutation carries the same weight: about 13 % of missense de novo mutations, or 1 in 7, were thought to cause ASD in the group under study.

One of the team's findings is that missense de novo mutations cause a total of 12 % of all autism, while LGD de novo mutations cause 9 %.

We performed exome sequencing in 13 parent - offspring trios and 112 unrelated individuals with nonsyndromic AVSDs and identified five rare missense variants (two of which arose de novo) in the highly conserved gene NR2F2.

Methods: We report 11 patients with pathogenic de novo mutations in STXBP1 identified in the first 4293 trios of the Deciphering Developmental Disorder (DDD) study, including six missense variants.

Here we present 19 de novo mutations in this gene, including five missense mutations, identified by the Deciphering Developmental Disorder study.