Several copy number variants have been associated with neuropsychiatric disorders and these variants have been shown to also influence cognitive abilities in carriers unaffected by psychiatric disorders. Previously, we associated the 15q11.2(BP1-BP2) deletion with specific learning disabilities and a larger corpus callosum. Here we investigate, in a much larger sample, the effect of the 15q11.2(BP1-BP2) deletion on cognitive, structural and functional correlates of dyslexia and dyscalculia. We report that the deletion confers greatest risk of the combined phenotype of dyslexia and dyscalculia. We also show that the deletion associates with a smaller left fusiform gyrus. Moreover, tailored functional magnetic resonance imaging experiments using phonological lexical decision and multiplication verification tasks demonstrate altered activation in the left fusiform and the left angular gyri in carriers. Thus, by using convergent evidence from neuropsychological testing, and structural and functional neuroimaging, we show that the 15q11.2(BP1-BP2) deletion affects cognitive, structural and functional correlates of both dyslexia and dyscalculia.
To determine cardiovascular risk profiles of patients with Kawasaki disease and to relate them to a noninvasive measure of endothelial function.
Case-control study. Cardiovascular risk assessment including brachial artery reactivity was performed in 24 patients 11.3 +/- 1.8 (mean +/- SD) years after Kawasaki disease and in 11 subjects in a normal control group.
The case versus control groups were similar regarding age, sex, race, body mass index, and percentage of ideal body weight, although cases had a higher mean z score of body mass index than normal (+1.00 +/- 1.18; P
The emergence of next-generation sequencing technologies allowed access to the vast amounts of information that are contained in the human genome. This information has contributed to the understanding of individual and population-based variability and improved the understanding of the evolutionary history of different human groups. However, the genome of a representative of the Amerindian populations had not been previously sequenced. Thus, the genome of an individual from a South American tribe was completely sequenced to further the understanding of the genetic variability of Amerindians. A total of 36.8 giga base pairs (Gbp) were sequenced and aligned with the human genome. These Gbp corresponded to 95.92% of the human genome with an estimated miscall rate of 0.0035 per sequenced bp. The data obtained from the alignment were used for SNP (single-nucleotide) and INDEL (insertion-deletion) calling, which resulted in the identification of 502,017 polymorphisms, of which 32,275 were potentially new high-confidence SNPs and 33,795 new INDELs, specific of South Native American populations. The authenticity of the sample as a member of the South Native American populations was confirmed through the analysis of the uniparental (maternal and paternal) lineages. The autosomal comparison distinguished the investigated sample from others continental populations and revealed a close relation to the Eastern Asian populations and Aboriginal Australian. Although, the findings did not discard the classical model of America settlement; it brought new insides to the understanding of the human population history. The present study indicates a remarkable genetic variability in human populations that must still be identified and contributes to the understanding of the genetic variability of South Native American populations and of the human populations history.
Cites: Science. 2008 May 9;320(5877):72918467561
Cites: Am J Hum Genet. 2003 Sep;73(3):524-3912900798
Cites: Nature. 2008 Nov 6;456(7218):53-918987734
Cites: Nature. 2008 Nov 6;456(7218):60-518987735
Cites: Hum Mutat. 2009 Feb;30(2):E386-9418853457
Cites: Bioinformatics. 2009 Aug 15;25(16):2078-919505943
Cites: Ann Hum Genet. 2009 Sep;73(Pt 5):540-919691551
Cites: Nature. 2009 Aug 20;460(7258):1011-519587683