title: Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China.
abstract: Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a rare genetic disorder and has not been described in China. We present a female infant with neonatal intrahepatic cholestasis from a Chinese family with ARC syndrome. All 23 coding exons and flanking introns of the VPS33B gene were amplified and sequenced using peripheral lymphocyte genomic DNA of the patient and her parents. Genetic testing revealed two novel mutations (c.1033delA and c.1567C>T) in the VPS33B gene. The patient is a compound heterozygote and her parents were heterozygous for each of the mutations.
authors.affiliation: Li-Ting Li, Jing Zhao, Rui Chen, Jian-She Wang, Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Li-Ting
authors.initials: LT
authors.lastname: Li
authors.affiliation: Li-Ting Li, Jing Zhao, Rui Chen, Jian-She Wang, Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Zhao
authors.affiliation: Li-Ting Li, Jing Zhao, Rui Chen, Jian-She Wang, Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Rui
authors.initials: R
authors.lastname: Chen
authors.affiliation: Li-Ting Li, Jing Zhao, Rui Chen, Jian-She Wang, Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Jian-She
authors.initials: JS
authors.lastname: Wang
mesh_terms: D001176:Arthrogryposis / Q000175:diagnosis / Q000235:genetics*; D002681:China; D002779:Cholestasis / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005183:Failure to Thrive; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017093:Liver Failure / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D051437:Renal Insufficiency / Q000175:diagnosis / Q000235:genetics*; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: C411584:VPS33B protein, human; D033921:Vesicular Transport Proteins
keywords: Arthrogryposis, renal dysfunction and cholestasis syndrome; Cholestasis; Gene; Mutation; VPS33B