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Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report

Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome is a rare autosomal recessive disease caused by VPS33B and VIPAR gene mutations. The main clinical manifestations are congenital joint contracture, renal dysfunction mainly characterized by distal renal tubular dysfunction, and low glutamyl...

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Detalles Bibliográficos
Autores principales: Zhu, Yingjie, Chen, Dongmei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9768213/
https://www.ncbi.nlm.nih.gov/pubmed/36568436
http://dx.doi.org/10.3389/fped.2022.1041080
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author Zhu, Yingjie
Chen, Dongmei
author_facet Zhu, Yingjie
Chen, Dongmei
author_sort Zhu, Yingjie
collection PubMed
description Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome is a rare autosomal recessive disease caused by VPS33B and VIPAR gene mutations. The main clinical manifestations are congenital joint contracture, renal dysfunction mainly characterized by distal renal tubular dysfunction, and low glutamyltransferase cholestasis. Most patients with ARC die within 2 years of birth. Here, we report the case of a 12-year-old girl with an ARC phenotype who experienced long-term survival with only mild clinical symptoms. We detected two new heterozygous mutation sites of the VPS33B gene in this child, c.1081C > T (p.GLN361X, 257) and c.244T > C (p.Cys82Arg), through the gene detection technique; the tertiary structure of the protein was predicted by using the SWISS-model. We further reviewed the literature and summarized the clinical manifestations and gene loci of 19 ARC syndrome patients with long-term survival reported so far.
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spelling pubmed-97682132022-12-22 Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report Zhu, Yingjie Chen, Dongmei Front Pediatr Pediatrics Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome is a rare autosomal recessive disease caused by VPS33B and VIPAR gene mutations. The main clinical manifestations are congenital joint contracture, renal dysfunction mainly characterized by distal renal tubular dysfunction, and low glutamyltransferase cholestasis. Most patients with ARC die within 2 years of birth. Here, we report the case of a 12-year-old girl with an ARC phenotype who experienced long-term survival with only mild clinical symptoms. We detected two new heterozygous mutation sites of the VPS33B gene in this child, c.1081C > T (p.GLN361X, 257) and c.244T > C (p.Cys82Arg), through the gene detection technique; the tertiary structure of the protein was predicted by using the SWISS-model. We further reviewed the literature and summarized the clinical manifestations and gene loci of 19 ARC syndrome patients with long-term survival reported so far. Frontiers Media S.A. 2022-12-07 /pmc/articles/PMC9768213/ /pubmed/36568436 http://dx.doi.org/10.3389/fped.2022.1041080 Text en © 2022 Zhu and Chen. 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) (https://creativecommons.org/licenses/by/4.0/) . 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
Zhu, Yingjie
Chen, Dongmei
Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report
title Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report
title_full Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report
title_fullStr Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report
title_full_unstemmed Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report
title_short Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report
title_sort two novel mutations in vps33b gene cause a milder arc syndrome with prolonged survival in a 12-year-old patient: case report
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9768213/
https://www.ncbi.nlm.nih.gov/pubmed/36568436
http://dx.doi.org/10.3389/fped.2022.1041080
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