A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
DC Field | Value | Language |
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dc.contributor.author | Lee, Min Ju | - |
dc.contributor.author | Suh, Chae Ri | - |
dc.contributor.author | Shin, Jeong Hee | - |
dc.contributor.author | Lee, Jee Hyun | - |
dc.contributor.author | Lee, Yoon | - |
dc.contributor.author | Eun, Baik-Lin | - |
dc.contributor.author | Yoo, Kee Hwan | - |
dc.contributor.author | Shim, Jung Ok | - |
dc.date.accessioned | 2021-09-01T01:20:57Z | - |
dc.date.available | 2021-09-01T01:20:57Z | - |
dc.date.created | 2021-06-19 | - |
dc.date.issued | 2019-11 | - |
dc.identifier.issn | 2234-8646 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/62047 | - |
dc.description.abstract | Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystemic disease that is associated with the liver, kidney, skin, and central nervous and musculoskeletal systems. ARC occurs as a result of mutations in the VPS33B (Vacuolar protein sorting 33 homolog B) or VIPAR (VPS33B interacting protein, apical-basolateral polarity regulator) genes. A female infant presented with neonatal cholestasis with a severe clinical outcome. She was diagnosed with ARC syndrome using targeted exome sequencing (TES). Exome sequencing revealed compound heterozygous mutations, c.707A>T and c.239+5G>A, in VPS33B, where c.707A>T was a novel variant; the resultant functional protein defects were predicted via in silico analysis. c.239+5G>A, a pathogenic mutation that affects splicing, is found in less than 0.1% of the general population. Invasive techniques, such as liver biopsies, did not contribute to a differential diagnosis of ARC syndrome; thus, early TES together with clinical presentations constituted an apparently accurate diagnostic procedure. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | KOREAN SOC PEDIATRIC GASTROENTEROLOGY & NUTRITION | - |
dc.subject | ARC SYNDROME | - |
dc.subject | MULTIPLEX-CONGENITA | - |
dc.subject | MUTATIONS | - |
dc.subject | PHENOTYPE | - |
dc.subject | DEFECTS | - |
dc.title | A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Eun, Baik-Lin | - |
dc.contributor.affiliatedAuthor | Yoo, Kee Hwan | - |
dc.contributor.affiliatedAuthor | Shim, Jung Ok | - |
dc.identifier.doi | 10.5223/pghn.2019.22.6.581 | - |
dc.identifier.scopusid | 2-s2.0-85076582212 | - |
dc.identifier.wosid | 000496920200011 | - |
dc.identifier.bibliographicCitation | PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION, v.22, no.6, pp.581 - 587 | - |
dc.relation.isPartOf | PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION | - |
dc.citation.title | PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION | - |
dc.citation.volume | 22 | - |
dc.citation.number | 6 | - |
dc.citation.startPage | 581 | - |
dc.citation.endPage | 587 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.identifier.kciid | ART002522602 | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | kci | - |
dc.relation.journalResearchArea | Pediatrics | - |
dc.relation.journalWebOfScienceCategory | Pediatrics | - |
dc.subject.keywordPlus | ARC SYNDROME | - |
dc.subject.keywordPlus | MULTIPLEX-CONGENITA | - |
dc.subject.keywordPlus | MUTATIONS | - |
dc.subject.keywordPlus | PHENOTYPE | - |
dc.subject.keywordPlus | DEFECTS | - |
dc.subject.keywordAuthor | Neonatal cholestasis | - |
dc.subject.keywordAuthor | VIPAR | - |
dc.subject.keywordAuthor | VPS33B | - |
dc.subject.keywordAuthor | Mutation | - |
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