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Specialty: Genetics & Stem Cells

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Total 60 results found since Jan 2013.

Mutation of Dcdc2 in mice leads to impairments in auditory processing and memory ability
Abstract Dyslexia is a complex neurodevelopmental disorder characterized by impaired reading ability despite normal intellect, and is associated with specific difficulties in phonological and rapid auditory processing, visual attention, and working memory. Genetic variants in DCDC2 have been associated with dyslexia, impairments in phonological processing, and in short term/working memory. The purpose of this study was to determine whether sensory and behavioral impairments can result directly from mutation of the Dcdc2 gene in mice. Several behavioral tasks, including a modified pre‐pulse inhibition paradigm (to examine...
Source: Genes, Brain and Behavior - August 11, 2014 Category: Genetics & Stem Cells Authors: Dongnhu T. Truong, Alicia Che, Amanda R. Rendall, Caitlin E. Szalkowski, Joseph J. LoTurco, Albert M. Galaburda, R. Holly Fitch Tags: Original Article Source Type: research

De Novo microdeletion of BCL11A is associated with severe speech sound disorder
In 10 cases of 2p15p16.1 microdeletions reported worldwide to date, shared phenotypes included growth retardation, craniofacial and skeletal dysmorphic traits, internal organ defects, intellectual disability, nonverbal or low verbal status, abnormal muscle tone, and gross motor delays. The size of the deletions ranged from 0.3 to 5.7 Mb, where the smallest deletion involved the BCL11A, PAPOLG, and REL genes. Here we report on an 11‐year‐old male with a heterozygous de novo 0.2 Mb deletion containing a single gene, BCL11A, and a phenotype characterized by childhood apraxia of speech and dysarthria in the presence of...
Source: American Journal of Medical Genetics Part A - May 8, 2014 Category: Genetics & Stem Cells Authors: Beate Peter, Mark Matsushita, Kaori Oda, Wendy Raskind Tags: Clinical Report Source Type: research

Genome scan for cognitive trait loci of dyslexia: Rapid naming and rapid switching of letters, numbers, and colors
Dyslexia, or specific reading disability, is a common developmental disorder that affects 5–12% of school‐aged children. Dyslexia and its component phenotypes, assessed categorically or quantitatively, have complex genetic bases. The ability to rapidly name letters, numbers, and colors from rows presented visually correlates strongly with reading in multiple languages and is a valid predictor of reading and spelling impairment. Performance on measures of rapid naming and switching, RAN and RAS, is stable throughout elementary school years, with slowed performance persisting in adults who still manifest dyslexia. Target...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - May 8, 2014 Category: Genetics & Stem Cells Authors: Kevin B. Rubenstein, Wendy H. Raskind, Virginia W. Berninger, Mark M. Matsushita, Ellen M. Wijsman Tags: Research Article Source Type: research

Genes, Vol. 5, Pages 285-309: Reading and Language Disorders: The Importance of Both Quantity and Quality
Reading and language disorders are common childhood conditions that often co-occur with each other and with other neurodevelopmental impairments. There is strong evidence that disorders, such as dyslexia and Specific Language Impairment (SLI), have a genetic basis, but we expect the contributing genetic factors to be complex in nature. To date, only a few genes have been implicated in these traits. Their functional characterization has provided novel insight into the biology of neurodevelopmental disorders. However, the lack of biological markers and clear diagnostic criteria have prevented the collection of the large samp...
Source: Genes - April 4, 2014 Category: Genetics & Stem Cells Authors: Dianne NewburyAnthony MonacoSilvia Paracchini Tags: Review Source Type: research

Expanding the phenotypic profile of boys with 47, XXY: The impact of familial learning disabilities
The aim of the study was to examine the impact of familial learning disabilities (FLD) on the phenotypic profile of 47, XXY males and the possibility that 47, XXY males with more severe cognitive deficits may be partially a consequence of familial dyslexia/reading disorder. We wondered if FLD could pose an additional risk for complex neurodevelopmental differences in 47, XXY. The neurodevelopmental profile of males with 47, XXY has been characterized by developmental dyspraxia, language‐based learning disorders, executive dysfunction, reading, and attentional deficits. One hundred eighteen boys with 47, XXY diagnosed pre...
Source: American Journal of Medical Genetics Part A - April 1, 2014 Category: Genetics & Stem Cells Authors: Carole A. Samango‐Sprouse, Emily J. Stapleton, Francie L. Mitchell, Teresa Sadeghin, Thomas P. Donahue, Andrea L. Gropman Tags: Research Article Source Type: research

Asymmetry of brain and behavior in animals: Its development, function, and human relevance
Summary: Since the discovery of brain asymmetry in a wide range of vertebrate species, it has become possible to study development and expression of lateralized behavior accurately in well‐controlled experiments. Several species have emerged as useful models for investigating aspects of lateralization. Discussed here are: (1) the influence of exposure to light during embryonic development on lateralization, (2) effects of steroid hormones on lateralization, (3) developmental changes in which hemisphere is controlling behavior, and (4) asymmetry in memory formation and recall. The findings have bearing on understanding th...
Source: genesis - January 22, 2014 Category: Genetics & Stem Cells Authors: Lesley J. Rogers Tags: Technology Report Source Type: research

Asymmetry of brain and behavior in animals, its development, function and human relevance
Abstract Since the discovery of brain asymmetry in a wide range of vertebrate species, it has become possible to study development and expression of lateralized behavior accurately in well‐controlled experiments. Several species have emerged as useful models for investigating aspects of lateralization. Discussed here are: (1) the influence of exposure to light during embryonic development on lateralization, (2) effects of steroid hormones on lateralization, (3) developmental changes in which hemisphere is controlling behavior, and (4) asymmetry in memory formation and recall. The findings have bearing on understanding th...
Source: genesis - December 1, 2013 Category: Genetics & Stem Cells Authors: Lesley J. Rogers Tags: Review Article Source Type: research

Genetic risk variants for dyslexia on chromosome 18 in a German cohort
Abstract Dyslexia is characterized by impaired reading and spelling. The disorder has a prevalence of about 5% in Germany, and a strong hereditary component. Several loci are thought to be involved in the development of dyslexia. Scerri et al. (2010) identified eight potential dyslexia‐associated single nucleotide polymorphisms (SNPs) in seven genes on chromosome 18 in an English‐speaking population. Here, we present an association analysis which explores the relevance of these SNPs in a German population comprising 388 dyslexia cases and 364 control cases. In case–control analysis, three nominal SNP associations wer...
Source: Genes, Brain and Behavior - November 1, 2013 Category: Genetics & Stem Cells Authors: Bent Mueller, Peter Ahnert, Jana Burkhardt, Jens Brauer, Ivonne Czepezauer, Elfi Quente, Johannes Boltze, Arndt Wilcke, Holger Kirsten Tags: Original Article Source Type: research

Common Variants in Left/Right Asymmetry Genes and Pathways Are Associated with Relative Hand Skill
We report a genome-wide association study meta-analysis for a quantitative measure of relative hand skill in individuals with dyslexia [reading disability (RD)] (n = 728). The most strongly associated variant, rs7182874 (P = 8.68×10−9), is located in PCSK6, further supporting an association we previously reported. We also confirmed the specificity of this association in individuals with RD; the same locus was not associated with relative hand skill in a general population cohort (n = 2,666). As PCSK6 is known to regulate NODAL in the development of left/right (LR) asymmetry in mice, we developed a novel appr...
Source: PLoS Genetics - September 12, 2013 Category: Genetics & Stem Cells Authors: William M. Brandler et al. Source Type: research

Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort
ie Iannuzzi, Yves Chaix, Sylviane Valdois, Catherine Billard, Florence George, Isabelle Soares-Boucaud, Christophe-Loïc Gérard, Sanne van der Mark, Enrico Schulz, Anniek Vaessen, Urs Maurer, Kaisa Lohvansuu, Heikki Lyytinen, Marco Zucchelli, Daniel Brandeis, Leo Blomert, Paavo HT Leppänen, Jennifer Bruder, Anthony P Monaco, Bertram Müller-Myhsok, Juha Kere, Karin Landerl, Markus M Nöthen, Gerd Schulte-Körne, Silvia Paracchini, Myriam Peyrard-Janvid & Johannes Schumacher
Source: European Journal of Human Genetics - September 11, 2013 Category: Genetics & Stem Cells Authors: Jessica BeckerDarina CzamaraTom S ScerriFranck RamusValéria CsépeJoel B TalcottJohn SteinAndrew MorrisKerstin U LudwigPer HoffmannFerenc HonbolygóDénes TóthFabien FauchereauCaroline BogliottiStéphanie IannuzziYves ChaixSylviane ValdoisCatherine Bill Tags: dyslexia word-reading spelling association study candidate genes Source Type: research

Genome‐wide copy number scan identifies disruption of PCDH11X in developmental dyslexia
Developmental dyslexia (DD) is a complex heritable disorder with unexpected difficulty in learning to read and spell despite adequate intelligence, education, environment, and normal senses. We performed a whole genome copy number variations (CNV) scan on 11 dyslexic families consisting of 14 dyslexic subjects and 24 non dyslexic members using 1.8 million combined SNP and CNV markers. We found CNVs affecting protocadherin genes in six dyslexics from three families, while none among the non‐dyslexic control members showed any CNV in protocadherins. We identified duplications in five cases and a deletion in one case in Xq2...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - September 1, 2013 Category: Genetics & Stem Cells Authors: Avinash M. Veerappa, Marita Saldanha, Prakash Padakannaya, Nallur B. Ramachandra Tags: Research Article Source Type: research

Lack of association between genetic polymorphisms in ROBO1, MRPL19/C2ORF3 and THEM2 with Developmental Dyslexia.
Abstract Developmental Dyslexia (DD) is a heritable, complex genetic disorder characterized by specific impairment in reading and writing ability that is substantially below the expected reading ability given the person's chronological age, measured intelligence and age-appropriate education. More than ten susceptible genes have been identified for DD. A Single Nucleotide Polymorphism (SNP) of these genes was found to be associated with various phenotypes of DD. To identify the role of SNPs of four candidate genes namely, MRPL19/C2ORF3, ROBO1 and THEM2 in an Indian population, we genotyped eight SNPs of these gene...
Source: Gene - August 14, 2013 Category: Genetics & Stem Cells Authors: Venkatesh SK, Siddaiah A, Padakannaya P, Ramachandra NB Tags: Gene Source Type: research

Function and Regulation of AUTS2, a Gene Implicated in Autism and Human Evolution
by Nir Oksenberg, Laurie Stevison, Jeffrey D. Wall, Nadav Ahituv Nucleotide changes in the AUTS2 locus, some of which affect only noncoding regions, are associated with autism and other neurological disorders, including attention deficit hyperactivity disorder, epilepsy, dyslexia, motor delay, language delay, visual impairment, microcephaly, and alcohol consumption. In addition, AUTS2 contains the most significantly accelerated genomic region differentiating humans from Neanderthals, which is primarily composed of noncoding variants. However, the function and regulation of this gene remain largely unknown. To characte...
Source: PLoS Genetics - January 17, 2013 Category: Genetics & Stem Cells Authors: Nir Oksenberg et al. Source Type: research

Xq27 FRAXA Locus is a Strong Candidate for Dyslexia: Evidence from a Genome-Wide Scan in French Families.
Abstract Dyslexia is a frequent neurodevelopmental learning disorder. To date, nine susceptibility loci have been identified, one of them being DYX9, located in Xq27. We performed the first French SNP linkage study followed by candidate gene investigation in dyslexia by studying 12 multiplex families (58 subjects) with at least two children affected, according to categorical restrictive criteria for phenotype definition. Significant results emerged on Xq27.3 within DYX9. The maximum multipoint LOD score reached 3,884 between rs12558359 and rs454992. Within this region, seven candidate genes were investigated for m...
Source: Behavior Genetics - January 11, 2013 Category: Genetics & Stem Cells Authors: Huc-Chabrolle M, Charon C, Guilmatre A, Vourc'h P, Tripi G, Barthez MA, Sizaret E, Thepault RA, Le Gallic S, Hager J, Toutain A, Raynaud M, Andres C, Campion D, Laumonnier F, Bonnet-Brilhault F Tags: Behav Genet Source Type: research

A family‐based association analysis and meta‐analysis of the reading disabilities candidate gene DYX1C1
Abstract Reading disabilities (RD) have a significant genetic basis and have shown linkage to multiple regions including chromosome 15q. Dyslexia susceptibility 1 candidate gene 1 (DYX1C1) on chromosome 15q21 was originally proposed as a candidate gene with two potentially functional polymorphisms at the −3G/A and 1249G/T positions showing association with RD. However, subsequent studies have yielded mixed results. We performed a literature review and meta‐analysis of the −3G/A and 1249G/T polymorphisms, including new unpublished data from two family‐based samples. Ten markers in DYX1C1 were genotyped in the two in...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - January 1, 2013 Category: Genetics & Stem Cells Authors: C. Tran, F. Gagnon, K.G. Wigg, Y. Feng, L. Gomez, T.D. Cate‐Carter, E.N. Kerr, L.L. Field, B.J. Kaplan, M.W. Lovett, C.L. Barr Tags: Research Article Source Type: research