A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
- Authors
- Lee, Min Ju; Suh, Chae Ri; Shin, Jeong Hee; Lee, Jee Hyun; Lee, Yoon; Eun, Baik-Lin; Yoo, Kee Hwan; Shim, Jung Ok
- Issue Date
- 11월-2019
- Publisher
- KOREAN SOC PEDIATRIC GASTROENTEROLOGY & NUTRITION
- Keywords
- Neonatal cholestasis; VIPAR; VPS33B; Mutation
- Citation
- PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION, v.22, no.6, pp.581 - 587
- Indexed
- SCOPUS
KCI
- Journal Title
- PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION
- Volume
- 22
- Number
- 6
- Start Page
- 581
- End Page
- 587
- URI
- https://scholar.korea.ac.kr/handle/2021.sw.korea/62047
- DOI
- 10.5223/pghn.2019.22.6.581
- ISSN
- 2234-8646
- 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.
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