2024
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow
Kim A, Sakin I, Viviano S, Tuncel G, Aguilera S, Goles G, Jeffries L, Ji W, Lakhani S, Kose C, Silan F, Oner S, Kaplan O, Group M, Ergoren M, Mishra-Gorur K, Gunel M, Sag S, Temel S, Deniz E. CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow. Life Science Alliance 2024, 7: e202402708. PMID: 39168639, PMCID: PMC11339347, DOI: 10.26508/lsa.202402708.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBrainCerebrospinal FluidCiliaCiliopathiesFemaleFibroblastsHumansIntellectual DisabilityKidneyMaleMutationPedigreeXenopusConceptsDevelopmental disabilitiesIntellectual disabilityPatient-derived fibroblastsMidbrain regionsBrain developmentDefective ciliogenesisCSF circulationDisabilityCSF flowAbnormal CSF flowNervous system developmentMutant tadpolesCiliated tissuesMultiple model systemsVariant functionPronephric ductUnrelated familiesCC2D1AExpression patternsCiliogenesisRenal dysplasiaLeft-right organizerFunctional analysisDisease mechanismsBrain
2012
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion
Emre Onat O, Gulsuner S, Bilguvar K, Nazli Basak A, Topaloglu H, Tan M, Tan U, Gunel M, Ozcelik T. Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. European Journal Of Human Genetics 2012, 21: 281-285. PMID: 22892528, PMCID: PMC3573203, DOI: 10.1038/ejhg.2012.170.Peer-Reviewed Original ResearchConceptsC-terminal transmembrane regionATPase domainNext-generation sequencingTransmembrane regionHomozygous regionsHomozygosity mappingAffected individualsATP8A2Novel missense variantChromosome 13q12Missense mutationsATP8A2 geneSegregation analysisConsanguineous familyMissense variantsUnrelated individualsMutationsMental retardationQuadrupedal locomotionGenesDysequilibrium syndromeSequencingTranslocationATPaseNovo
2011
Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism
Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, Günel M, State MW. Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism. Biological Psychiatry 2011, 71: 392-402. PMID: 22169095, PMCID: PMC3282144, DOI: 10.1016/j.biopsych.2011.09.034.Peer-Reviewed Original ResearchConceptsCopy number variationsRare copy number variationsNovel risk regionsEnrichment of genesGamma-aminobutyric acid receptor genesNervous system developmentEtiology of TSParent-child triosRare copy number variantsCopy number variantsGene mappingPathway analysisDe novo eventsAxon guidanceCell adhesionMolecular pathwaysNumber variationsRelevant pathwaysCNV analysisNumber variantsGenesReceptor geneDe novoNovo eventsPathway
2009
The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15
Bilguvar K, Ozturk AK, Bayrakli F, Guzel A, DiLuna ML, Bayri Y, Tatli M, Tekes S, Arlier Z, Yasuno K, Mason CE, Lifton RP, State MW, Gunel M. The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. American Journal Of Medical Genetics Part A 2009, 149A: 2569-2572. PMID: 19876906, DOI: 10.1002/ajmg.a.33063.Peer-Reviewed Original ResearchAbnormalities, MultipleArachnoid CystsBlood Specimen CollectionChromosome MappingChromosomes, Human, Pair 11DNADNA Copy Number VariationsFamilyFemaleGenome, HumanGenome-Wide Association StudyGenotypeHomozygoteHumansIntellectual DisabilityLissencephalyLod ScoreMalePedigreePhenotypePolymorphism, Single NucleotideSyndrome
2007
Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts
Guzel A, Tatli M, Bilguvar K, DiLuna ML, Bakkaloglu B, Ozturk AK, Bayrakli F, Gunel M. Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts. American Journal Of Medical Genetics Part A 2007, 143A: 672-677. PMID: 17343267, DOI: 10.1002/ajmg.a.31640.Peer-Reviewed Original ResearchMeSH KeywordsArachnoid CystsEpilepsyFemaleHumansIntellectual DisabilityMalePedigreeSyndromeTelencephalonConceptsArachnoid cystCerebral anomaliesMental retardationAutosomal recessive inheritanceSeizure disorderNovel genetic syndromeCentrum semiovaleLack of mutationsPerivascular spacesWhite matterNew syndromeGenetic syndromesLissencephaly geneSyndromeCystsRecessive inheritancePachygyriaSeizuresConsanguineous familyRetardationNew phenotypesPatients