A novel VPS33B variant identified by exome sequencing in a patient with arthrogryposis-renal dysfunction-cholestasis syndrome
- Authors
- Lee M.J.U.; Suh C.R.I.; Shin J.H.; Lee J.H.; Lee Y.; Eun B.L.; Yoo K.H.; Shim J.O.
- Issue Date
- 2019
- Publisher
- Korean Society of Pediartic Gastroenterology, Hepatology and Nutrition
- Keywords
- Mutation; Neonatal cholestasis; VIPAR; VPS33B
- Citation
- Pediatric Gastroenterology, Hepatology and Nutrition, v.22, no.6, pp 581 - 587
- Pages
- 7
- Indexed
- SCOPUS
ESCI
KCI
- Journal Title
- Pediatric Gastroenterology, Hepatology and Nutrition
- Volume
- 22
- Number
- 6
- Start Page
- 581
- End Page
- 587
- URI
- https://scholarworks.korea.ac.kr/kumedicine/handle/2020.sw.kumedicine/2638
- DOI
- 10.5223/pghn.2019.22.6.581
- ISSN
- 2234-8646
2234-8840
- 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. ? 2019 by The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition.
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Collections - 2. Clinical Science > Department of Pediatrics > 1. Journal Articles
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