2018
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)
Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Çağlayan AO, Najafi M, Stanley V, Boustany RM, Yeşil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). Journal Of Medical Genetics 2018, 56: 332. PMID: 30487245, PMCID: PMC6581149, DOI: 10.1136/jmedgenet-2018-105623.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleBrainChildChild, PreschoolConsanguinityExome SequencingFaciesFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHomeodomain ProteinsHomozygoteHumansInfantLoss of Function MutationMagnetic Resonance ImagingMaleModels, MolecularNeurodevelopmental DisordersPedigreePhenotypePolymorphism, Single NucleotideProtein ConformationSyndromeConceptsScrotal agenesisCerebellar hypoplasiaCharacteristic facial gestaltHomozygous truncating variantConsanguineous familyUnrelated consanguineous familiesOphthalmological anomaliesSyndromic neurodevelopmental disorderCardinal featuresCerebello-oculoCorneal dystrophyLabioscrotal foldsTruncating variantsFunction variantsFacial gestaltExome sequencingSyndromeSimilar phenotypic featuresGenetic causeFacial dysmorphismNeurodevelopmental disordersMissense variantsVariable microcephalyNeurodevelopmental syndromeAffected individuals
2014
Histidine Decarboxylase Deficiency Causes Tourette Syndrome: Parallel Findings in Humans and Mice
Baldan LC, Williams KA, Gallezot JD, Pogorelov V, Rapanelli M, Crowley M, Anderson GM, Loring E, Gorczyca R, Billingslea E, Wasylink S, Panza KE, Ercan-Sencicek AG, Krusong K, Leventhal BL, Ohtsu H, Bloch MH, Hughes ZA, Krystal JH, Mayes L, de Araujo I, Ding YS, State MW, Pittenger C. Histidine Decarboxylase Deficiency Causes Tourette Syndrome: Parallel Findings in Humans and Mice. Neuron 2014, 81: 77-90. PMID: 24411733, PMCID: PMC3894588, DOI: 10.1016/j.neuron.2013.10.052.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAmphetamineAnimalsBrainChildDopamine AgonistsDopamine AntagonistsExploratory BehaviorFemaleHistidine DecarboxylaseHumansMaleMaze LearningMiceMice, KnockoutMiddle AgedMutationOxazinesRacloprideRadionuclide ImagingStereotyped BehaviorTime FactorsTourette SyndromeTryptophanYoung AdultConceptsTourette syndromeHA infusionKnockout miceD2/D3 receptor bindingDecarboxylase deficiencyDopamine D2 antagonist haloperidolCortico-basal ganglia circuitsStriatal DA levelsHDC knockout miceD3 receptor bindingImmediate early gene FosD2 antagonist haloperidolRare genetic causeBiosynthesis of histamineStriatal DARare causeBasal gangliaDA levelsAntagonist haloperidolGanglia circuitsPrepulse inhibitionMiceReceptor bindingGenetic causeHistidine decarboxylase