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Lookup NU author(s): Intisar Al Alawi, Laura Powell, Dr Sarah RiceORCiD, Professor John SayerORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
Copyright © 2021 Al Alawi, Powell, Rice, Al Riyami, Al-Riyami, Al Salmi and Sayer.Variants in 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. We report a female, from a consanguineous family, who presented age 9 years with echogenic kidneys with loss of cortico-medullary differentiation and progressive chronic kidney disease reaching kidney failure by 10 years of age. A novel homozygous in-frame deletion (NM_032,575.3: c.560_574delACCATGTCAACGATT, p.H188_Y192del) in GLIS2 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 leading to its predicted pathogenicity. This study broadens the variant spectrum of GLIS2 variants leading to NPHP-RC. WES is a suitable molecular tool for children with kidney failure suggestive of NPHP-RC and should be part of routine diagnostics in kidney failure of unknown cause, especially in consanguineous families.
Author(s): Al Alawi I, Powell L, Rice SJ, Al Riyami MS, Al-Riyami M, Al Salmi I, Sayer JA
Publication type: Article
Publication status: Published
Journal: Frontiers in Genetics
Year: 2021
Volume: 12
Print publication date: 01/11/2021
Online publication date: 30/11/2021
Acceptance date: 28/10/2021
Date deposited: 14/01/2022
ISSN (electronic): 1664-8021
Publisher: Frontiers Media S.A.
URL: https://doi.org/10.3389/fgene.2021.791495
DOI: 10.3389/fgene.2021.791495
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