0000000000741769

AUTHOR

Hans Matsson

showing 2 related works from this author

Polymorphisms in DCDC2 and S100B associate with developmental dyslexia

2015

Genetic studies of complex traits have become increasingly successful as progress is made in next-generation sequencing. We aimed at discovering single nucleotide variation present in known and new candidate genes for developmental dyslexia: CYP19A1, DCDC2, DIP2A, DYX1C1, GCFC2 (also known as C2orf3), KIAA0319, MRPL19, PCNT, PRMT2, ROBO1 and S100B. We used next-generation sequencing to identify single-nucleotide polymorphisms in the exons of these 11 genes in pools of 100 DNA samples of Finnish individuals with developmental dyslexia. Subsequent individual genotyping of those 100 individuals, and additional cases and controls from the Finnish and German populations, validated 92 out of 111 …

Nonsynonymous substitutionCandidate genemedicine.medical_specialtyShort CommunicationGenomicsS100 Calcium Binding Protein beta SubunitBiologyPolymorphism Single NucleotideDyslexia03 medical and health sciences0302 clinical medicineDCDC2Molecular geneticssingle-nucleotide polymorphismsmedicineHumansGenetic Predisposition to DiseasegeneticsGenotypingGenetic Association StudiesGenetics (clinical)ta515030304 developmental biologyGenetics0303 health sciencesperinnöllisyystiedeta1184DyslexiaSequence Analysis DNAmedicine.diseasedevelopmental dyslexiata3124Genetic epidemiologyCase-Control Studiesindividual genotypingMicrotubule-Associated Proteins030217 neurology & neurosurgeryJournal of Human Genetics
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A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia.

2007

DYX3, a locus for dyslexia, resides on chromosome 2p11-p15. We have refined its location on 2p12 to a 157 kb region in two rounds of linkage disequilibrium (LD) mapping in a set of Finnish families. The observed association was replicated in an independent set of 251 German families. Two overlapping risk haplotypes spanning 16 kb were identified in both sample sets separately as well as in a joint analysis. In the German sample set, the odds ratio for the most significantly associated haplotype increased with dyslexia severity from 2.2 to 5.2. The risk haplotypes are located in an intergenic region between FLJ13391 and MRPL19/C2ORF3. As no novel genes could be cloned from this region, we hy…

MaleRibosomal ProteinsCandidate geneLinkage disequilibriumHeterozygoteTranscription GeneticLocus (genetics)BiologyPolymorphism Single NucleotideLinkage DisequilibriumDyslexiaEvolution MolecularMitochondrial Proteins03 medical and health sciences0302 clinical medicineIntergenic regionGene mappingDCDC2GermanyGeneticsmedicineAnimalsHumansFamilyMolecular BiologyGenetics (clinical)FinlandPhylogeny030304 developmental biologyGenetics0303 health sciencesHaplotypeDyslexiaBrainChromosome MappingGeneral Medicinemedicine.diseaseRepressor ProteinsPhenotypeHaplotypesChromosomes Human Pair 2Female030217 neurology & neurosurgeryHuman molecular genetics
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