2024
Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33
Aynekin B, Samur B, Ozgul Gumus U, Bilguvar K, Gulec A, Efthymiou S, Gumus H, Caglayan A, Per H. Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33. Molecular Syndromology 2024, 1-14. DOI: 10.1159/000543107.Peer-Reviewed Original ResearchMolar tooth signRare autosomal recessive disorderOptic nerve atrophySevere renal diseaseAutosomal recessive disorderHomozygous nonsense mutationWhole-exome sequencingNerve atrophyRenal atrophyDisease-causing genesClinical spectrumClinical featuresDysmorphic featuresClinical manifestationsPhenotypic expansionDiagnostic awarenessHomozygous mutationJoubert syndromePathogenic variantsPatient's seizuresRecessive disorderRenal diseaseNonsense mutationDevelopmental delayKidney failure
2020
METAP1 mutation is a novel candidate for autosomal recessive intellectual disability
Caglayan AO, Aktar F, Bilguvar K, Baranoski JF, Akgumus GT, Harmanci AS, Erson-Omay EZ, Yasuno K, Caksen H, Gunel M. METAP1 mutation is a novel candidate for autosomal recessive intellectual disability. Journal Of Human Genetics 2020, 66: 215-218. PMID: 32764695, PMCID: PMC7785574, DOI: 10.1038/s10038-020-0820-0.Peer-Reviewed Original ResearchConceptsEssential proteinsAutosomal recessive intellectual disabilityRecessive intellectual disabilityMethionine aminopeptidase 1Genomic analysisHomozygous nonsense mutationFunction mutationsNovel homozygous nonsense mutationNonsense mutationAminopeptidase 1Novel candidatesNeuronal functionMutationsMolecular pathogenesisProteinIntellectual disabilityGenome testingEukaryotesNovel etiologyMetAP1GenesNeurologic impairmentCommon diseasePathwayCells
2013
Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype
Tüysüz B, Yılmaz S, Gül E, Kolb L, Bilguvar K, Evliyaoğlu O, Günel M. Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype. American Journal Of Medical Genetics Part A 2013, 161: 1300-1308. PMID: 23633440, DOI: 10.1002/ajmg.a.35906.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleAdolescentAdultCalcification, PhysiologicCodon, NonsenseConsanguinityDehydroepiandrosteroneDehydroepiandrosterone SulfateDwarfismFemaleGenotypeGrowth DisordersHomozygoteHumansMaleMultienzyme ComplexesMusculoskeletal AbnormalitiesOsteochondrodysplasiasPedigreePhenotypeRadiographySequence Analysis, DNASulfate AdenylyltransferaseTurkeyConceptsDHEA sulfate levelsShort femoral neckShort halluxFemale patientsInsulin resistanceFemoral neckPlasma levelsIliac boneTestosterone levelsTurkish patientsCoxa varaPatientsVertebral bodyMetaphyseal abnormalitiesShort statureSkeletal dysplasiaEpiphyseal ossificationHyperandrogenismDysplasiaDehydroepiandrosteroneSulfate levelsTurkish familyNonsense mutationPAPSS2Androstenedione