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- W4213251155 abstract "Mutations of the GLIS family zinc finger protein 2 (GLIS2 ) are a rare cause of nephronophthisis-related ciliopathies (NPHP-RC). A reduction in urinary concentration and a progressive chronic tubulointerstitial nephropathy with corticomedullary cysts are the major characteristic features of NPHP. NPHP demonstrates phenotypic and genetic heterogeneity with at least 25 different recessive genes associated with the disease. Genetic analysis using whole exome sequencing (WES)was carried out after obtaining consent from the family. Exomes were captured bySureSelect Human All Exon V6 Enrichment Kit (Agilent Technologies, CA, USA), and high-throughput sequencing was conducted with an Illumina HiSeq platform (Illumina, San Diego,CA, USA). We report a12 years female, from a consanguineous family, who presented with echogenic kidneys with loss of cortico-medullary differentiation and progressive chronic kidney disease reaching kidney failure by the age of 10 years. A novel homozygous in-frame deletion (NM_032575.3: c.560_574delACCATGTCAACGATT, p.H188_Y192del) in GLIS2 gene was identified using whole exome sequencing (WES) that segregated from each parent. The five amino acid deletion disrupts the alpha-helix of GLIS2 zinc-finger motif with predicted misfolding of the protein. This study broadens the variant spectrum of GLIS2 mutations leading to NPHP-RC. WES is a suitable molecular tool for children with renal impairment suggestive of NPHP-RC and should be part of routine diagnostics in kidney failure of unknown cause, especially in consanguineous families." @default.
- W4213251155 created "2022-02-24" @default.
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- W4213251155 date "2022-02-01" @default.
- W4213251155 modified "2023-10-18" @default.
- W4213251155 title "POS-428 A NOVEL IN-FRAME DELETION OF GLIS2 LEADING TO NEPHRONOPHTHISIS AND EARLY END STAGE KIDNEY DISEASE" @default.
- W4213251155 doi "https://doi.org/10.1016/j.ekir.2022.01.455" @default.
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