2022
Severe 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
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nature Genetics 2018, 50: 1093-1101. PMID: 30013181, PMCID: PMC6072555, DOI: 10.1038/s41588-018-0166-0.Peer-Reviewed Original ResearchConceptsNeuronal migrationHuman cerebral cortexCortical neuronal migrationΒ-catenin signalingCerebral cortexPotential disease mechanismsDevelopmental brain defectsBiallelic truncating mutationsNeuronal phenotypeBiallelic lossBrain defectsBiallelic mutationsTruncating mutationsDisease mechanismsΒ-cateninPachygyriaRecessive formNeurite stabilityNeuronsFamily membersCTNNA2OveractivityPatients