Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Publish Year: 1397
نوع سند: مقاله کنفرانسی
زبان: Persian
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CNAMED06_017

تاریخ نمایه سازی: 2 تیر 1397

Abstract:

Galloway-Mowat syndrome (GAMOS) is a severe autosomal-recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome (SRNS) and microcephaly with brain anomalies.Phenotypically, all individuals with mutations in any of the 4 KEOPS genes had primary microcephaly, developmental delay, propensity for seizures, and NS of early onset. Most patients died in early childhood.Several individuals were noted to have facial dysmorphism sometimes with features of progeria, and skeletal abnormalities such as arachnodactyly.The KEOPS complex contains 4 subunits LAGE3, OSGEP, TP53RK, and TPRKB. It regulates a universal chemical modification of tRNAs that is necessary for translational accuracy and efficiency.We thereby discovered recessive mutations in any of the 4 genes encoding KEOPS complex proteins as novel causes of Galloway-Mowat syndrome. We termed these variants of GAMOS due to mutations in LAGE3, OSGEP, TP53RK, or TPRKB, ‘GAMOS 2’, ‘GAMOS 3’, ‘GAMOS 4’ and ‘GAMOS 5’, respectively. Thus, we made the surprising discovery, that specific recessive mutations in 4 genes that serve a fundamental cellular function cause a distinct renal-neuronal disease phenotype

Authors

Mastane Moghtaderi

Tehran University of Medical Sciences, Tehran, Iran