{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T22:30:24Z","timestamp":1770503424124,"version":"3.49.0"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2009,3,1]],"date-time":"2009-03-01T00:00:00Z","timestamp":1235865600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. pediatr. gastroenterol. nutr."],"published-print":{"date-parts":[[2009,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objectives:<\/jats:title><jats:p>ARC (arthrogryposis, renal dysfunction, and cholestasis) syndrome is a rare, fatal cause of neonatal intrahepatic cholestasis without known treatment modalities and has recently been ascribed to a mutation in the <jats:italic>VPS33B<\/jats:italic> gene. We assessed the clinical characteristics and investigated the <jats:italic>VPS33B<\/jats:italic> mutations in Korean patients with ARC syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and Methods:<\/jats:title><jats:p>We reviewed the medical records of 6 patients with ARC syndrome among 90 patients with neonatal cholestasis from 2000 to 2005 and assessed the relative incidence rate ratio, clinical symptoms, laboratory findings, and pathological findings. DNA samples from 5 patients, 4 parents, and 2 fetuses were analyzed for <jats:italic>VPS33B<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>The relative incidence rate ratio was 1\/7 that of biliary atresia (95% CI 0.33\u20130.06). All 6 patients presented with ichthyosis and recurrent infection, and failed to thrive with the 3 main symptoms. All of the patients died within the age of 12 months. They had various severities of cholestasis, metabolic acidosis, nephrogenic diabetes insipidus, chronic diarrhea, platelet abnormalities, and central nervous system anomalies. We identified 1 novel c.403+2T&gt;A splice\u2010site mutation, 2 frame\u2010shift mutations (c.1509_1510insG, c.790_791del), 1 nonsense mutation (c.661C&gt;A), and 1 known nonsense mutation (c.1518C&gt;T) in the <jats:italic>VPS33B<\/jats:italic> gene. Prenatal diagnosis was performed in 2 different families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>This study indicates that the incidence of ARC syndrome is not as rare as has been thought. We found 4 novel and 1 known mutations in ARC syndrome patients and performed prenatal diagnosis in 2 families, which will facilitate genetic diagnosis and counseling for affected families.<\/jats:p><\/jats:sec>","DOI":"10.1097\/mpg.0b013e31817fcb3f","type":"journal-article","created":{"date-parts":[[2009,5,21]],"date-time":"2009-05-21T13:29:05Z","timestamp":1242912545000},"page":"348-354","source":"Crossref","is-referenced-by-count":34,"title":["Clinical Characteristics and <i>VPS33B<\/i> Mutations in Patients With ARC Syndrome"],"prefix":"10.1002","volume":"48","author":[{"given":"Joo Young","family":"Jang","sequence":"first","affiliation":[{"name":"Department of Pediatrics Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyung Mo","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gu\u2010Hwan","family":"Kim","sequence":"additional","affiliation":[{"name":"Medical Genetics Clinic Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eunsil","family":"Yu","sequence":"additional","affiliation":[{"name":"Pathology Asan Medical Center University of Ulsan College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin\u2010Joo","family":"Lee","sequence":"additional","affiliation":[{"name":"Medical Genetics Clinic Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Young Seo","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han\u2010Wook","family":"Yoo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Korea"},{"name":"Medical Genetics Clinic 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