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Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report

Monogenic nephrotic syndrome (NS) is associated with a resistance to initial glucocorticoid therapy and causative variants, which may be found in several genes influencing podocyte stability and kidney development. The TTC21B gene, which encodes the retrograde intraflagellar transport protein IFT139...

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Autores principales: Bezdíčka, Martin, Zemková, Dana, Skálová, Sylva, Hovorková, Eva, Podhola, Miroslav, Burkert, Jan, Zieg, Jakub
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8603824/
https://www.ncbi.nlm.nih.gov/pubmed/34805047
http://dx.doi.org/10.3389/fped.2021.752878
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author Bezdíčka, Martin
Zemková, Dana
Skálová, Sylva
Hovorková, Eva
Podhola, Miroslav
Burkert, Jan
Zieg, Jakub
author_facet Bezdíčka, Martin
Zemková, Dana
Skálová, Sylva
Hovorková, Eva
Podhola, Miroslav
Burkert, Jan
Zieg, Jakub
author_sort Bezdíčka, Martin
collection PubMed
description Monogenic nephrotic syndrome (NS) is associated with a resistance to initial glucocorticoid therapy and causative variants, which may be found in several genes influencing podocyte stability and kidney development. The TTC21B gene, which encodes the retrograde intraflagellar transport protein IFT139, is found mostly in association with ciliopathies in humans. The role of this protein in podocyte cytoskeleton stability was confirmed later and the mutated TTC21B also may be associated with proteinuric diseases, such as nephrotic syndrome. Our patient manifested as an infant with brachydactyly, nephrotic-range proteinuria, and renal tubular acidosis, and a kidney biopsy revealed focal segmental glomerulosclerosis (FSGS). Multiple phalangeal cone-shaped epiphyses of the hand were seen on X-ray. Next-generation sequencing revealed the well-described p.Pro209Leu heterozygous variant and a novel heterozygous p.Cys14Arg variant in the TTC21B gene. Our finding confirmed that the causative variants in the TTC21B gene may contribute to a spectrum of clinical features, such as glomerular proteinuric disease with tubulointerstitial involvement and skeletal abnormalities.
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spelling pubmed-86038242021-11-20 Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report Bezdíčka, Martin Zemková, Dana Skálová, Sylva Hovorková, Eva Podhola, Miroslav Burkert, Jan Zieg, Jakub Front Pediatr Pediatrics Monogenic nephrotic syndrome (NS) is associated with a resistance to initial glucocorticoid therapy and causative variants, which may be found in several genes influencing podocyte stability and kidney development. The TTC21B gene, which encodes the retrograde intraflagellar transport protein IFT139, is found mostly in association with ciliopathies in humans. The role of this protein in podocyte cytoskeleton stability was confirmed later and the mutated TTC21B also may be associated with proteinuric diseases, such as nephrotic syndrome. Our patient manifested as an infant with brachydactyly, nephrotic-range proteinuria, and renal tubular acidosis, and a kidney biopsy revealed focal segmental glomerulosclerosis (FSGS). Multiple phalangeal cone-shaped epiphyses of the hand were seen on X-ray. Next-generation sequencing revealed the well-described p.Pro209Leu heterozygous variant and a novel heterozygous p.Cys14Arg variant in the TTC21B gene. Our finding confirmed that the causative variants in the TTC21B gene may contribute to a spectrum of clinical features, such as glomerular proteinuric disease with tubulointerstitial involvement and skeletal abnormalities. Frontiers Media S.A. 2021-11-05 /pmc/articles/PMC8603824/ /pubmed/34805047 http://dx.doi.org/10.3389/fped.2021.752878 Text en Copyright © 2021 Bezdíčka, Zemková, Skálová, Hovorková, Podhola, Burkert and Zieg. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Bezdíčka, Martin
Zemková, Dana
Skálová, Sylva
Hovorková, Eva
Podhola, Miroslav
Burkert, Jan
Zieg, Jakub
Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report
title Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report
title_full Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report
title_fullStr Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report
title_full_unstemmed Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report
title_short Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report
title_sort tubuloglomerular disease with cone-shaped epiphyses associated with hypomorphic variant and a novel p.cys14arg in the ttc21b gene: a case report
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8603824/
https://www.ncbi.nlm.nih.gov/pubmed/34805047
http://dx.doi.org/10.3389/fped.2021.752878
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