2023
Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD
Wang S, Wang B, Drury V, Drake S, Sun N, Alkhairo H, Arbelaez J, Duhn C, Bal V, Langley K, Martin J, Hoekstra P, Dietrich A, Xing J, Heiman G, Tischfield J, Fernandez T, Owen M, O’Donovan M, Thapar A, State M, Willsey A. Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD. Nature Communications 2023, 14: 8077. PMID: 38057346, PMCID: PMC10700338, DOI: 10.1038/s41467-023-43776-0.Peer-Reviewed Original ResearchConceptsDamaging variantsHigh-confidence ASD risk genesExome-wide significanceRare genetic variationASD risk genesRare damaging variantsHemizygous natureWhole-exome sequencing studiesExome sequencing studiesGene discoveryMultiple neurodevelopmental disordersGenetic variationGenetic mechanismsChr XMale sex biasSequencing studiesChromosome XRisk genesTransmission disequilibrium testAttention-deficit/hyperactivity disorderASD probandsAutism spectrum disorderASD familiesSex biasInformative recombinations
2010
L-Histidine Decarboxylase and Tourette's Syndrome
Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW. L-Histidine Decarboxylase and Tourette's Syndrome. New England Journal Of Medicine 2010, 362: 1901-1908. PMID: 20445167, PMCID: PMC2894694, DOI: 10.1056/nejmoa0907006.Peer-Reviewed Original ResearchConceptsRare functional mutationsL-histidine decarboxylaseRate-limiting enzymeHDC geneTwo-generation pedigreeFunctional mutationsStrong genetic contributionHistamine biosynthesisAnalysis of linkageGenetic contributionModel systemRisk allelesDevelopmental neuropsychiatric disordersDecarboxylaseBiosynthesisGenesTourette syndromeMutationsAllelesEnzymeInheritanceNeuropsychiatric disordersPedigree
2005
Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome
Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rašin M, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS, Kurlan R, Singer HS, Gilbert DL, Farhi A, Louvi A, Lifton RP, Šestan N, State MW. Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome. Science 2005, 310: 317-320. PMID: 16224024, DOI: 10.1126/science.1116502.Peer-Reviewed Original ResearchMeSH Keywords3' Untranslated RegionsAdolescentAnimalsAttention Deficit Disorder with HyperactivityBrainChildChild, PreschoolChromosome InversionChromosome MappingChromosomes, Human, Pair 13DNADNA Mutational AnalysisFemaleFrameshift MutationHumansIn Situ Hybridization, FluorescenceMaleMembrane ProteinsMiceMutationNerve Tissue ProteinsPedigreeSequence Analysis, DNATourette SyndromeConceptsSequence variantsTourette syndromeChromosomal inversionsFrameshift mutantsCandidate genesExpression patternsControl chromosomesPrimary neuronal culturesFrameshift mutationSLITRK1Independent occurrenceMotor ticsDevelopmental neuropsychiatric disordersChronic vocalNeuronal culturesIdentical variantsUnrelated probandsBrain regionsNeuropsychiatric disordersSyndrome