2014
DOI: 10.1038/nature13772
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Abstract: SummaryThe genetic architecture of autism spectrum disorder involves the interplay of common and rare variation and their impact on hundreds of genes. Using exome sequencing, analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate (FDR) < 0.05, and a set of 107 autosomal genes strongly enriched for those likely to affect risk (FDR < 0.30). These 107 genes, which show unusual evolutionary constraint against m… Show more

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Cited by 2,263 publications
(2,510 citation statements)
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“…Our patient harbors a de novo cytosine deletion (c.1343delC) in exon 4 of the BCL11A gene (NM_022893 [BCL11A_i001]) leading to a premature stop codon (p.Pro448Argfs*31) at the same amino acid (479) as the c.1325_1325del (p.Leu442Profs*37) reported in a cohort of patients with ASD (De Rubeis et al, 2014). Reported LoF mutations are scattered throughout the gene, whereas the pathological missense variants described so far are all located in the N‐terminal domain, necessary for dimerization of BCL11A isoforms and interaction with nucleosome remodeling complexes (Dias et al, 2016) (Figure 1A).…”
Section: Discussionmentioning
confidence: 71%
“…Our patient harbors a de novo cytosine deletion (c.1343delC) in exon 4 of the BCL11A gene (NM_022893 [BCL11A_i001]) leading to a premature stop codon (p.Pro448Argfs*31) at the same amino acid (479) as the c.1325_1325del (p.Leu442Profs*37) reported in a cohort of patients with ASD (De Rubeis et al, 2014). Reported LoF mutations are scattered throughout the gene, whereas the pathological missense variants described so far are all located in the N‐terminal domain, necessary for dimerization of BCL11A isoforms and interaction with nucleosome remodeling complexes (Dias et al, 2016) (Figure 1A).…”
Section: Discussionmentioning
confidence: 71%
“…Using NGS, O'Rack et al. identified de novo variations in FOXP1 , GRIN2B , SCN1A , LAMC3, and rare inherited CNTNAP2 variations (De Rubeis et al., 2014; O'Roak et al., 2011). Three genes were found in ASD probands with two de novo variations in each of these genes: BRCA2 , FAT1, and KCNMA1 (Neale et al., 2012).…”
Section: Reviewmentioning
confidence: 99%
“…Others genes encoding synaptic proteins linked to ASD were also identified by NGS: They include the glutamate receptors (GRIK2, GRIA3), the cell adhesion molecule CNTNAP2, and the scaffolding protein SHANK3. SHANK3 is involved in (i) synapse formation and maturation, (ii) the link between neurotransmitter receptors and ion channels, and (iii) the interaction with scaffolding proteins and gene regulatory proteins (e.g., protein of chromatin remodeling CHD8; Anney et al., 2010; Cotney et al., 2015; De Rubeis et al., 2014; O'Roak et al., 2011). NRXN1 , NLGN3/4X, and SHANK3 genes, which encode proteins involved in neuronal cell adhesion and in the regulation of synaptic transmission, are considered strong candidate loci for ASD (Weiss & Arking, 2009).…”
Section: Reviewmentioning
confidence: 99%
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