Search results for "Lod Score"

showing 2 items of 22 documents

Xq27 FRAXA Locus is a Strong Candidate for Dyslexia: Evidence from a Genome-Wide Scan in French Families

2012

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 mutations in exonic sequences (CXORF1, CXORF51, SLITRK2, FMR1, FMR2, ASFMR1, FMR1NB), al…

Malecongenital hereditary and neonatal diseases and abnormalitiesCandidate geneGenotypeGenome-wide association studyLocus (genetics)BiologyPolymorphism Single NucleotideGenomeDyslexiaFragile X Mental Retardation ProteinGenes X-LinkedGenotypeGeneticsmedicineHumansSNPGenetic Predisposition to DiseaseChildGenetics (clinical)Ecology Evolution Behavior and SystematicsGeneticsChromosomes Human XDyslexiamedicine.diseaseFMR1Settore MED/39 - Neuropsichiatria InfantilePedigreeGenetic LociFemaleFranceDyslexia Linkage study Multiplex families Fmr1 Dyx 9 loci InLod ScoreGenome-Wide Association StudyBehavior Genetics
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The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

2001

We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes.

Malecongenital hereditary and neonatal diseases and abnormalitiesDNA Mutational AnalysisMolecular Sequence DataMutantMutation MissenseNeural ConductionGenes RecessiveNerve Tissue ProteinsLocus (genetics)BiologyPolymerase Chain ReactionFrameshift mutationCharcot-Marie-Tooth DiseaseGeneticsHumansMissense mutationAge of OnsetAlleleChildFrameshift MutationGeneAllelesGeneticsBrainInfantExonsAnatomyPhenotypeAxonsPedigreeAmino Acid SubstitutionHaplotypesSpinal CordCodon NonsenseSpainChild PreschoolFemaleLod ScoreVocal cord paresisChromosomes Human Pair 8Demyelinating DiseasesNature Genetics
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