المؤلفون: Stefania Riva, Marco Villa, Vittoria Trezzi, Valentina Riva, Sara Mascheretti, Diego Forni, Alessandra Mozzi, Roberto Giorda, Rachele Cagliani, Manuela Sironi

المصدر: Neuropsychologia. 130:52-58

مصطلحات موضوعية: Adult, Male, Candidate gene, Genotype, Offspring, Cognitive Neuroscience, media_common.quotation_subject, Individuality, Experimental and Cognitive Psychology, Neuropsychological Tests, Polymorphism, Single Nucleotide, 050105 experimental psychology, Dyslexia, 03 medical and health sciences, Behavioral Neuroscience, 0302 clinical medicine, DCDC2, Pleiotropy, Reading (process), Humans, Genetic Predisposition to Disease, 0501 psychology and cognitive sciences, Child, Nuclear family, Genetic Association Studies, media_common, Genetics, 05 social sciences, Haplotype, Genetic Variation, Haplotypes, Reading, Trait, Female, Psychology, Microtubule-Associated Proteins, 030217 neurology & neurosurgery

الوصف: Developmental dyslexia (DD) is a complex neurodevelopmental heritable disorder. Among DD candidate genes, DCDC2 is one of the most replicated, with rs793862, READ1 and rs793842 likely contribute to phenotypic variability in reading (dis)ability. In this study, we tested the effects of these genetic variants on DD as a categorical trait and on quantitative reading-related measures in a sample of 555 Italian nuclear families with 930 offspring, of which 687 were diagnosed with DD. We conducted both single-marker and haplotype analyses, finding that the READ1-deletion was significantly associated with reading, whereas no significant haplotype associations were found. Our findings add further evidence to support the hypothesis of a DCDC2 contribution to inter-individual variation in distinct indicators of reading (dis)ability in transparent languages (i.e., reading accuracy and speed), suggesting a potential pleiotropic effect.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c5f4822515d7a27d63c20b9c1ade78cTest
https://doi.org/10.1016/j.neuropsychologia.2018.05.021Test

المؤلفون: Cecilia Marino, Roberto Giorda, Andrea Facoetti, Monica Consonni, Pasquale Anthony Della Rosa, Maria Luisa Lorusso, Jeffrey R. Gruen, Andrea Falini, Daniela Perani, Massimo Molteni, Paola Scifo, Sara Mascheretti

المساهمون: Marino, C, Scifo, P, Della Rosa, Pa, Mascheretti, S, Facoetti, A, Lorusso, Ml, Giorda, R, Consonni, M, Falini, Andrea, Molteni, M, Gruen, Jr, Perani, DANIELA FELICITA L.

المصدر: Cortex (Testo stamp.) 57 (2014): 227–243. doi:10.1016/j.cortex.2014.04.016
info:cnr-pdr/source/autori:Marino, Cecilia; Scifo, Paola; Della Rosa, Pasquale A.; Mascheretti, Sara; Facoetti, Andrea; Lorusso, Maria L.; Giorda, Roberto; Consonni, Monica; Falini, Andrea; Molteni, Massimo; Gruen, Jeffrey R.; Perani, Daniela/titolo:The DCDC2%2Fintron 2 deletion and white matter disorganization: Focus on developmental dyslexia/doi:10.1016%2Fj.cortex.2014.04.016/rivista:Cortex (Testo stamp.)/anno:2014/pagina_da:227/pagina_a:243/intervallo_pagine:227–243/volume:57

مصطلحات موضوعية: Adult, Male, DCDC2, medicine.medical_specialty, Genu of the corpus callosum, Adolescent, Developmental dyslexia, Cognitive Neuroscience, Splenium, Experimental and Cognitive Psychology, Audiology, Corpus callosum, Neuronal migration, behavioral disciplines and activities, Article, Lateralization of brain function, Dyslexia, White matter, Young Adult, mental disorders, Fractional anisotropy, medicine, Humans, Inferior longitudinal fasciculus, READ1, Diffusion tensor imaging, medicine.disease, White Matter, Introns, Neuropsychology and Physiological Psychology, medicine.anatomical_structure, Reading, Female, Nerve Net, Psychology, Microtubule-Associated Proteins, Neuroscience

الوصف: INTRODUCTION: The DCDC2 gene is involved in neuronal migration. Heterotopias have been found within the white matter of DCDC2-knockdown rats. A deletion in DCDC2/intron 2 (DCDC2d), which encompasses a regulatory region named 'regulatory element associated with dyslexia 1' (READ1), increases the risk for dyslexia. We hypothesized that DCDC2d can be associated to alterations of the white matter structure in general and in dyslexic brains. METHODS: Based on a full-factorial analysis of covariance (ANCOVA) model, we investigated voxel-based diffusion tensor imaging (VB-DTI) data of four groups of subjects: dyslexia with/without DCDC2d, and normal readers with/without DCDC2d. We also tested DCDC2d effects upon correlation patterns between fractional anisotropy (FA) and reading scores. RESULTS: We found that FA was reduced in the left arcuate fasciculus and splenium of the corpus callosum in subjects with versus without DCDC2d, irrespective of dyslexia. Subjects with dyslexia and DCDC2d showed reduced FA, mainly in the left hemisphere and in the corpus callosum; their counterpart without DCDC2d showed similar FA alterations. Noteworthy, a conjunction analysis in impaired readers revealed common regions with lower FA mainly in the left hemisphere. When we compared subjects with dyslexia with versus without DCDC2d, we found lower FA in the inferior longitudinal fasciculus and genu of the corpus callosum, bilaterally. Normal readers with versus without DCDC2d had FA increases and decreases in both the right and left hemisphere. DISCUSSION: The major contribution of our study was to provide evidence relating genes, brain and behaviour. Overall, our findings support the hypothesis that DCDC2d is associated with altered FA. In normal readers, DCDC2-related anatomical patterns may mark some developmental cognitive vulnerability to learning disabilities. In subjects with dyslexia, DCDC2d accounted for both common - mainly located in the left hemisphere - and unique - a more severe and extended pattern - alterations of white matter fibre tracts. Copyright © 2014 Elsevier Ltd. All rights reserved.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4402cf8cf8e524346742eeae9855a349Test
https://doi.org/10.1016/j.cortex.2014.04.016Test

المؤلفون: Roberto Giorda, Sara Mascheretti, Maria Rosaria Cellino, Cecilia Marino, Silvana Beri, Valentina Riva, Lara Francesca Emilia Lanzoni

المصدر: Journal of human genetics. 59(4)

مصطلحات موضوعية: Proband, medicine.medical_specialty, Adolescent, Nerve Tissue Proteins, Biology, Quantitative trait locus, Language Development, Polymorphism, Single Nucleotide, Developmental psychology, Cohort Studies, Dyslexia, Cognition, Genetics, medicine, Humans, Receptors, Immunologic, Child, Nuclear family, Genetics (clinical), Genetic Association Studies, Language, Genetic Pleiotropy, Transmission disequilibrium test, Mathematical Concepts, medicine.disease, Developmental disorder, Phenotype, Genetic epidemiology, Reading, Trait, Medical genetics

الوصف: Substantial heritability has been reported for developmental dyslexia (DD), and KIAA0319 and ROBO1 appear as more than plausible candidate susceptibility genes for this developmental disorder. Converging evidence indicates that developmental difficulties in oral language and mathematics can predate or co-occur with DD, and substantial genetic correlations have been found between these abilities and reading traits. In this study, we explored the role of eight single-nucleotide polymorphisms spanning within KIAA0319 and ROBO1 genes, and DD as a dichotomic trait, related neuropsychological phenotypes and comorbid language and mathematical (dis)abilities in a large cohort of 493 Italian nuclear families ascertained through a proband with a diagnosis of DD. Marker-trait association was analyzed by implementing a general test of family-based association for quantitative traits (that is, the Quantitative Transmission Disequilibrium Test, version 2.5.1). By providing evidence for significant association with mathematics skills, our data add further result in support of ROBO1 contributing to the deficits in DD and its correlated phenotypes. Taken together, our findings shed further light into the etiologic basis and the phenotypic complexity of this developmental disorder.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::826442afb179b0f9300a481d7078872dTest
https://pubmed.ncbi.nlm.nih.gov/24430574Test

المؤلفون: Maria Nobile, Laura Vanzin, Roberto Giorda, Cecilia Marino, Giorgia Menozzi, Massimo Molteni, Alessandra Citterio, Maria Luisa Lorusso, Andrea Facoetti

مصطلحات موضوعية: Genetic Markers, Male, Linkage disequilibrium, Genotype, Intelligence, Short-term memory, Nerve Tissue Proteins, Single-nucleotide polymorphism, Neuropsychological Tests, Biology, Linkage Disequilibrium, Dyslexia, Behavioral Neuroscience, DCDC2, Genetics, Humans, Child, Association (psychology), Genetic association, Intelligence Tests, Haplotype, Nuclear Proteins, DNA, Phenotype, Cytoskeletal Proteins, Memory, Short-Term, Haplotypes, Reading, Neurology, Female, Psychomotor Performance

الوصف: A substantial genetic contribution in the etiology of developmental dyslexia (DD) has been well documented with independent groups reporting a susceptibility locus on chromosome 15q. After the identification of the DYX1C1 gene as a potential candidate for DD, several independent association studies reported controversial results. We performed a family-based association study to determine whether the DYX1C1 single nucleotide polymorphisms (SNPs) that have been associated with DD before, that is SNPs '-3GA' and '1249GT', influence a broader phenotypic definition of DD. A significant linkage disequilibrium was observed with 'Single Letter Backward Span' (SLBS) in both single-marker and haplotype analyses. These results provide further support to the association between DD and DYX1C1 and it suggests that the linkage disequilibrium with DYX1C1 is more saliently explained in Italian dyslexics by short-term memory, as measured by 'SLBS', than by the categorical diagnosis of DD or other related phenotypes.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef0eef0cf1512ec115530c34173a8ebfTest
http://hdl.handle.net/11577/1773598Test