2023
Eighth case of Li‐Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype
Edizadeh M, Kaymakcalan H, Valilou S, Şahin Y. Eighth case of Li‐Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype. American Journal Of Medical Genetics Part A 2023, 191: 1465-1469. PMID: 36757286, DOI: 10.1002/ajmg.a.63146.Peer-Reviewed Original ResearchConceptsExome sequencingPathogenic variantsCo-segregation studiesE3 ubiquitin protein ligaseUbiquitin-protein ligaseSplice site variantIn silico algorithmsBiallelic pathogenic variantsSite variantsUBR7Co-segregationSanger sequencingAutosomal recessive disorderBioinformatics prediction analysisDysmorphic featuresVariation c.Turkish familyHeterozygous statePathogenic effectsRecessive disorderCongenital heart defectsVariantsSequenceHeart defectsGenital anomalies
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