2017
ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features
Çağlayan AO, Sezer RG, Kaymakçalan H, Ulgen E, Yavuz T, Baranoski JF, Bozaykut A, Harmanci AS, Yalcin Y, Youngblood MW, Yasuno K, Bilgüvar K, Gunel M. ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features. Molecular Case Studies 2017, 3: a001859. PMID: 28630369, PMCID: PMC5593152, DOI: 10.1101/mcs.a001859.Peer-Reviewed Original ResearchConceptsNovel homozygous frameshift mutationWk of gestationHomozygous pathogenic variantNovel disease-causing genesPhenotypic featuresHomozygous frameshift mutationWhole-exome sequencingHeterozygous family membersUnrelated consanguineous familiesEchocardiographic examinationDisease groupPrimary cardiomyopathyMale infantHypertrophic cardiomyopathyRoutine diagnostic toolCardiac diseaseCardiac abnormalitiesMale fetusesCardiomyopathyPathogenic variantsGenetic testingDysmorphic featuresGene mutationsPast historyDisease-causing genes
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