Mild phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome 1 caused by a novel VPS33B variant

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dc.creatorNatália Duarte Linhares
dc.creatorEleonora Druve Tavares Fagundes
dc.creatorAlexandre Rodrigues Ferreira
dc.creatorThaís Costa Nascentes Queiroz
dc.creatorLuiz Roberto da Silva
dc.creatorSergio Danilo Junho Pena
dc.date.accessioned2024-06-28T20:55:29Z
dc.date.accessioned2025-09-09T01:17:04Z
dc.date.available2024-06-28T20:55:29Z
dc.date.issued2022-02-25
dc.description.sponsorshipCNPq - Conselho Nacional de Desenvolvimento Científico e Tecnológico
dc.description.sponsorshipFAPEMIG - Fundação de Amparo à Pesquisa do Estado de Minas Gerais
dc.format.mimetypepdf
dc.identifier.doi10.3389/fgene.2022.796759
dc.identifier.issn1664-8021
dc.identifier.urihttps://hdl.handle.net/1843/69505
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofFrontiers in Genetics
dc.rightsAcesso Aberto
dc.subjectSequenciamento do Exoma
dc.subjectColestase
dc.subjectArtrogripose
dc.subjectSíndrome de Fanconi
dc.subjectNefropatias
dc.titleMild phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome 1 caused by a novel VPS33B variant
dc.typeArtigo de periódico
local.citation.epage8
local.citation.spage1
local.citation.volume13
local.description.resumoThe arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is an autosomal recessive multisystem disease caused by variants in VPS33B or VIPAS39. The classical presentation includes congenital joint contractures, renal tubular dysfunction, cholestasis, and early death. Additional features include ichthyosis, central nervous system malformations, platelet dysfunction, and severe failure to thrive. We studied three patients with cholestasis, increased aminotransferases, normal gamma-glutamyl transferase, and developmental and language delay. Whole exome sequencing analysis identified VPS33B variants in all patients: patients 1 and 2 presented a novel homozygous variant at position c.1148T>A. p.(Ile383Asn), and patient 3 was compound heterozygous for the same c.1148T>A. variant, in addition to the c.940-2A>G. variant. ARCS is compatible with the symptomatology presented by the studied patients. However, most patients that have been described in the literature with ARCS had severe failure to thrive and died in the first 6 months of life. The three patients studied here have a mild ARCS phenotype with prolonged survival. Consequently, we believe that the molecular analysis of the VPS33B and VIPAS39 should be considered in patients with normal gamma-glutamyl transferase cholestasis.
local.publisher.countryBrasil
local.publisher.departmentMED - DEPARTAMENTO DE PEDIATRIA
local.publisher.initialsUFMG
local.url.externahttps://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.796759/full

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