Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co‐occurrence?
Tüysüz B, Ercan-Sencicek AG, Canpolat N, Koparır A, Yılmaz S, Kılıçaslan I, Gülez B, Bilguvar K, Günel M. Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co‐occurrence? American Journal Of Medical Genetics Part A 2016, 170: 1187-1195. PMID: 26749367, DOI: 10.1002/ajmg.a.37543.Peer-Reviewed Original ResearchConceptsRenal involvementFlexion contractureNormal renal functionCause of proteinuriaNephrotic range proteinuriaFocal segmental glomerulosclerosisRare lysosomal storage disorderHereditary kidney diseaseGlomerular visceral epithelial cellsNovel homozygous missense mutationVisceral epithelial cellsWhole-exome sequencingLysosomal storage disorderRenal functionBiopsy findingsRenal biopsyKidney diseaseSegmental glomerulosclerosisFamily historyChildhood onsetGNPTAB geneHealthy siblingsHomozygous missense mutationLarge jointsMild short statureA patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP
Çağlayan AO, Tüysüz B, Coşkun S, Quon J, Harmancı AS, Baranoski JF, Baran B, Erson-Omay EZ, Henegariu O, Mane SM, Bilgüvar K, Yasuno K, Günel M. A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP. Journal Of Human Genetics 2016, 61: 395-403. PMID: 26740239, PMCID: PMC4880488, DOI: 10.1038/jhg.2015.160.Peer-Reviewed Original ResearchMeSH KeywordsAlpha-Ketoglutarate-Dependent Dioxygenase FTOApoptosisBiopsyChild, PreschoolCholesterol Ester Transfer ProteinsComputational BiologyConsanguinityDNA Copy Number VariationsDNA Mutational AnalysisExomeFemaleGene ExpressionGene Expression ProfilingGenetic Association StudiesGenotypeHigh-Throughput Nucleotide SequencingHomozygoteHumansMutation, MissensePhenotypeTranscriptome