2022
Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes
Tuysuz B, Alkaya D, Geyik F, Alaylıoğlu M, Kasap B, Kurugoğlu S, Akman Y, Vural M, Bilguvar K. Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes. Journal Of Medical Genetics 2022, 60: 819-826. PMID: 36543534, DOI: 10.1136/jmg-2022-108763.Peer-Reviewed Original ResearchConceptsOsteogenesis imperfectaWestern blot analysisPathogenic variantsFrameshift variantSkin fibroblast samplesExpression levelsInsulin-dependent Akt phosphorylationBlot analysisAutosomal recessive osteogenesis imperfectaWhole-exome sequencingMRNA expression levelsType 1 collagenBisphosphonate treatmentRecurrent fracturesClinical evaluationRecessive osteogenesis imperfectaCommon findingReal-time PCRMRNA expressionVertebral changesHeterogeneous groupAkt phosphorylationLong bonesBloodSkin fibroblastsSevere Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM
Tuysuz B, Department of Pediatric Genetics I, Sencicek A, Ozer E, Goc N, Yalcinkaya C, Bilguvar K, Department of Neurosurgery P, Department of Neurology I. Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM. Turkish Archives Of Pediatrics 2022, 57: 521-525. PMID: 35950747, PMCID: PMC9524456, DOI: 10.5152/turkarchpediatr.2022.22070.Peer-Reviewed Original ResearchWhole-exome sequencingL1 syndromeSevere phenotypeMissense mutationsHemizygous missense mutationClinical characteristicsDifferential diagnosisIndex patientsPatientsCarrier mothersPathogenic missense mutationsMale childrenL1CAM mutationsPathogenic variantsMild formHydrocephalusSpeech delaySyndromeExon 18Truncating mutationsGenetic etiologyIntellectual disabilityL1CAML1CAM geneFamily members
2018
Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome
Guemez‐Gamboa A, Çağlayan AO, Stanley V, Gregor A, Zaki M, Saleem SN, Musaev D, McEvoy‐Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, Fang R, Issa MY, Per H, Gumus H, Bayram AK, Kumandas S, Akgumus GT, Erson‐Omay E, Yasuno K, Bilguvar K, Heimer G, Pillar N, Shomron N, Weissglas‐Volkov D, Porat Y, Einhorn Y, Gabriel S, Ben‐Zeev B, Gunel M, Gleeson JG. Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome. Annals Of Neurology 2018, 84: 638-647. PMID: 30178464, PMCID: PMC6510237, DOI: 10.1002/ana.25327.Peer-Reviewed Original ResearchConceptsBrainstem malformationDysplasia syndromeEndothelial cellsBiallelic mutationsAutosomal recessive malformationSuch pathogenic variantsCharacteristic clinical presentationPatient-derived induced pluripotent stem cellsWhite matter tractsAnn NeurolAppendicular spasticityBrain calcificationClinical presentationPoor outcomeAxial hypotoniaPsychomotor disabilityProgressive microcephalyTract defectsPathogenic variantsPhenotypic spectrumPatientsCraniofacial dysmorphismBrain imagingNeural precursorsProtein expression
2016
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, Khashab H, Hamad M, Azzedine H, Clark K, Corrochano S, Wells S, Elting MW, Weiss MM, Burn S, Myers A, Landsverk M, Crotwell PL, Waisfisz Q, Wolf NI, Nolan PM, Padilla-Lopez S, Houlden H, Lifton R, Mane S, Singh BB, Falk MJ, Mercimek-Mahmutoglu S, Bilguvar K, Salih MA, Acevedo-Arozena A, Kruer MC. Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. American Journal Of Human Genetics 2016, 98: 1249-1255. PMID: 27236917, PMCID: PMC4908178, DOI: 10.1016/j.ajhg.2016.04.008.Peer-Reviewed Original ResearchConceptsGlutamatergic neurotransmissionMovement disordersAbnormalities of glutamateEpileptic-dyskinetic encephalopathyHyperkinetic movement disordersChildhood movement disordersBiallelic pathogenic variantsChronic abnormalitiesNeurological diseasesNeurological disordersMammalian brainPathogenic variantsEpilepsyDisordersFunction mutationsNeurotransmissionAbnormalitiesMonogenic neurological diseasesOuter core proteinFRRS1LEncephalopathyEtiologyChoreoathetosisAMPAExcitatory