2022
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome
Caglayan AO, Tuysuz B, Gül E, Alkaya DU, Yalcinkaya C, Gleeson JG, Bilguvar K, Gunel M. Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome. Journal Of Human Genetics 2022, 67: 553-556. PMID: 35338243, PMCID: PMC9420744, DOI: 10.1038/s10038-022-01032-1.Peer-Reviewed Original ResearchMeSH KeywordsGenes, DominantHumansIntellectual DisabilityMicrotubule-Associated ProteinsMuscular Atrophy, SpinalMutationMutation, MissenseConceptsWhole-exome sequencing analysisTruncal obesityJoint hypermobilityLower extremitiesHomozygous missense mutationSevere formBICD2 mutationsType 2BHeterozygous mutationsSpeech delayType 2AIntellectual disabilityPatientsSyndromeConsanguineous unionsMissense mutationsNovel candidatesSequencing analysisFirst reportMutations
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