Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure

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...

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Autores principales:	Intisar Al Alawi, Laura Powell, Sarah J. Rice, Mohammed S. Al Riyami, Marwa Al-Riyami, Issa Al Salmi, John A. Sayer
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	nephronophthisis (NPHP) whole exome sequencing end stage kidney disease (ESKD) consanguinity ciliopathies Genetics QH426-470
Acceso en línea:	https://doaj.org/article/5ea8894a3390408ebab0d658d0bea9d9
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spelling	oai:doaj.org-article:5ea8894a3390408ebab0d658d0bea9d92021-12-01T17:01:15ZCase Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure1664-802110.3389/fgene.2021.791495https://doaj.org/article/5ea8894a3390408ebab0d658d0bea9d92021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fgene.2021.791495/fullhttps://doaj.org/toc/1664-8021Variants 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.Intisar Al AlawiIntisar Al AlawiLaura PowellSarah J. RiceMohammed S. Al RiyamiMarwa Al-RiyamiIssa Al SalmiIssa Al SalmiJohn A. SayerJohn A. SayerJohn A. SayerFrontiers Media S.A.articlenephronophthisis (NPHP)whole exome sequencingend stage kidney disease (ESKD)consanguinityciliopathiesGeneticsQH426-470ENFrontiers in Genetics, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	nephronophthisis (NPHP) whole exome sequencing end stage kidney disease (ESKD) consanguinity ciliopathies Genetics QH426-470
spellingShingle	nephronophthisis (NPHP) whole exome sequencing end stage kidney disease (ESKD) consanguinity ciliopathies Genetics QH426-470 Intisar Al Alawi Intisar Al Alawi Laura Powell Sarah J. Rice Mohammed S. Al Riyami Marwa Al-Riyami Issa Al Salmi Issa Al Salmi John A. Sayer John A. Sayer John A. Sayer Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure
description	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.
format	article
author	Intisar Al Alawi Intisar Al Alawi Laura Powell Sarah J. Rice Mohammed S. Al Riyami Marwa Al-Riyami Issa Al Salmi Issa Al Salmi John A. Sayer John A. Sayer John A. Sayer
author_facet	Intisar Al Alawi Intisar Al Alawi Laura Powell Sarah J. Rice Mohammed S. Al Riyami Marwa Al-Riyami Issa Al Salmi Issa Al Salmi John A. Sayer John A. Sayer John A. Sayer
author_sort	Intisar Al Alawi
title	Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure
title_short	Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure
title_full	Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure
title_fullStr	Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure
title_full_unstemmed	Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure
title_sort	case report: a novel in-frame deletion of glis2 leading to nephronophthisis and early onset kidney failure
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/5ea8894a3390408ebab0d658d0bea9d9
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Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure

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