2016
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly
Jerber J, Zaki MS, Al-Aama JY, Rosti RO, Ben-Omran T, Dikoglu E, Silhavy JL, Caglar C, Musaev D, Albrecht B, Campbell KP, Willer T, Almuriekhi M, Çağlayan A, Vajsar J, Bilgüvar K, Ogur G, Jamra R, Günel M, Gleeson JG. Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. American Journal Of Human Genetics 2016, 99: 1181-1189. PMID: 27773428, PMCID: PMC5097947, DOI: 10.1016/j.ajhg.2016.09.007.Peer-Reviewed Original ResearchConceptsCongenital muscular dystrophyCobblestone lissencephalyOvermigration of neuronsBiallelic mutationsMuscular dystrophyTMTC3Affected individualsWalker-Warburg syndromeMembrane componentsSevere brain malformationsBasement membrane componentsFukuyama congenital muscular dystrophyMuscle creatine phosphokinaseEye defectsMutationsGenesRecessive formGenetic disordersGlial cellsMinimal eyeMuscle involvementCortical dysplasiaBrain malformationsEye anomaliesCreatine phosphokinase
2013
Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities
Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Šestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, Gleeson JG. Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities. American Journal Of Human Genetics 2013, 92: 468-474. PMID: 23472759, PMCID: PMC3591846, DOI: 10.1016/j.ajhg.2013.02.005.Peer-Reviewed Original ResearchConceptsBrain malformationsCongenital muscular dystrophyOcular abnormalitiesPial surfaceWhite matter signal abnormalitiesNeuronal migration disordersRadial glial cellsPial basement membraneLaminin subunit beta-1Brainstem hypoplasiaFirst cortical layerSignal abnormalitiesCerebellar dysplasiaGlial cellsMigration disordersMuscular abnormalitiesOccipital encephaloceleCortical layersBrain diseasesAbnormalitiesHomozygous deleterious mutationMalformationsBeta 1Muscular dystrophyAffected individuals