2020
A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant.
Meriç R, Ercan-Sencicek AG, Uludağ Alkaya D, Şahin Y, Sar M, Bilguvar K, Tüysüz B. A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant. Clinical Dysmorphology 2020, 30: 54-57. PMID: 32969855, DOI: 10.1097/mcd.0000000000000350.Peer-Reviewed Case Reports and Technical NotesBi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
Chatron N, Becker F, Morsy H, Schmidts M, Hardies K, Tuysuz B, Roselli S, Najafi M, Alkaya DU, Ashrafzadeh F, Nabil A, Omar T, Maroofian R, Karimiani EG, Hussien H, Kok F, Ramos L, Gunes N, Bilguvar K, Labalme A, Alix E, Sanlaville D, de Bellescize J, Poulat AL, Helbig I, von Spiczak S, Baulac S, Barisic N, Balling R, Caglayan H, Craiu D, Guerrini R, Klein K, Marini C, Muhle H, Rosenow F, Serratosa J, Sterbova K, Weber Y, Moslemi A, Lerche H, May P, Lesca G, Weckhuysen S, Tajsharghi H. Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. Brain 2020, 143: 1447-1461. PMID: 32282878, PMCID: PMC7241960, DOI: 10.1093/brain/awaa085.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleEpileptic SyndromesFemaleGlutamate DecarboxylaseHumansInfant, NewbornMaleMutationPedigreeConceptsEpileptic encephalopathyJoint contracturesSeizure onsetCleft palateMonths of lifePost-neonatal periodYears of ageBi-allelic lossΓ-aminobutyric acid (GABA) metabolismEnzyme GAD67Epileptic spasmsEarly EEGEpilepsy syndromesMyoclonic seizuresEarly-onset epilepsy syndromeDisease historyPes equinovarusPatientsNovel syndromeEncephalopathyBurst attenuationIndependent consanguineous familiesFirst monthTherapeutic hopeFunction variants
2019
Identification of a dominant MYH11 causal variant in chronic intestinal pseudo‐obstruction: Results of whole‐exome sequencing
Dong W, Baldwin C, Choi J, Milunsky JM, Zhang J, Bilguvar K, Lifton RP, Milunsky A. Identification of a dominant MYH11 causal variant in chronic intestinal pseudo‐obstruction: Results of whole‐exome sequencing. Clinical Genetics 2019, 96: 473-477. PMID: 31389005, DOI: 10.1111/cge.13617.Peer-Reviewed Original ResearchConceptsChronic Intestinal Pseudo-ObstructionSmooth muscle actin geneMuscle actin geneAdditional genetic evidenceGene burden analysisIntestinal Pseudo-ObstructionRare gastrointestinal disorderSmooth muscle contractionActin geneMyosin genesAdditional genesGenetic evidenceCausal variantsWhole-exome sequencingFamily membersCIPO patientsPseudo-ObstructionGenetic linkageGastrointestinal disordersDominant mutationsGenesUnaffected family membersGastrointestinal tractRare mutationsMuscle contraction
2014
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation
Tüysüz B, Yılmaz S, Erener-Ercan T, Bilguvar K, Günel M. Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. Pediatric Radiology 2014, 45: 771-776. PMID: 25256152, DOI: 10.1007/s00247-014-3159-x.Peer-Reviewed Original ResearchConceptsYears of ageShort statureRadiologic findingsJoint laxityMidface hypoplasiaLeptodactylic typeSevere genu valgumTypical radiologic findingsPostnatal short statureDe novo p.Whole-exome sequencingInitial radiographsSevere involvementRadiographic findingsHip dislocationGenu valgumKnee subluxationLigamentous laxitySmall epiphysisRare disorderDistal metaphysisProximal phalanxRadiologic hallmarksNovo p.First examinationNGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy
Caglayan AO, Comu S, Baranoski JF, Parman Y, Kaymakçalan H, Akgumus GT, Caglar C, Dolen D, Erson-Omay EZ, Harmanci AS, Mishra-Gorur K, Freeze HH, Yasuno K, Bilguvar K, Gunel M. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. European Journal Of Medical Genetics 2014, 58: 39-43. PMID: 25220016, PMCID: PMC4804755, DOI: 10.1016/j.ejmg.2014.08.008.Peer-Reviewed Original ResearchConceptsN-glycanase 1Proteasome-mediated degradationConserved enzymeFrame-shift mutationApparent intellectual disabilityBase pair deletionNeuromotor impairmentNovel homozygous frame-shift mutationHomozygous frame-shift mutationNeuronal cellsPair deletionAmyotrophic lateral sclerosisIntellectual disabilityMutationsProteinNeurological functionCorneal opacityNeurologic diseaseLateral sclerosisParkinson's diseaseProgressive lossDiseaseCytoplasmImpairmentDeletion
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 mutationPAPSS2AndrostenedioneWhole‐exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum
Caglayan A, Per H, Akgumus G, Gumus H, Baranoski J, Canpolat M, Calik M, Yikilmaz A, Bilguvar K, Kumandas S, Gunel M. Whole‐exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum. Clinical Genetics 2013, 84: 394-395. PMID: 23320496, PMCID: PMC4191904, DOI: 10.1111/cge.12088.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleBase SequenceCalcium ChannelsChildConsanguinityExomeHumansMaleMembrane ProteinsPedigreePhenotypeSequence Analysis, DNASyndrome
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
A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation.
Bilguvar K, Bydon M, Bayrakli F, Ercan-Sencicek AG, Bayri Y, Mason C, DiLuna ML, Seashore M, Bronen R, Lifton RP, State M, Gunel M. A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation. Journal Of Neurosurgery 2007, 107: 495-9. PMID: 18154020, DOI: 10.3171/ped-07/12/495.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleCarrier ProteinsChild, PreschoolChromosome DeletionChromosomes, Human, Pair 7Craniofacial AbnormalitiesDNAFemaleGene DosageHemangioma, Cavernous, Central Nervous SystemHeterozygoteHumansKruppel-Like Transcription FactorsNerve Tissue ProteinsOligonucleotide Array Sequence AnalysisReverse Transcriptase Polymerase Chain ReactionSyndromeZinc Finger Protein Gli3ConceptsGreig cephalopolysyndactyly syndromeCerebral cavernous malformationsDeleterious genetic variantsComparative genome hybridization analysisChromosome 7pArray-based CGHGene GLI3Distinct genesMultiple genesGenetic analysisGenomic DNANovel syndromeGenomic lesionsChromosome 7Contiguous gene syndromeQuantitative real-time polymerase chain reactionQuantitative RT-PCRGli3Hybridization analysis