title: Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis.
abstract: ARC syndrome is a rare autosomal recessive disease, characterized by arthrogryposis, renal tubular dysfunction and cholestasis. Herein a 2.5 month old infant with dysmorphic features, including small anterior fontanel, low set ears, beaked nose and high arched palate is presented who was referred because of icterus. He also suffered from some additional anomalies, including unilateral choanal atresia, club foot, and bilateral developmental dislocation of hip, while further studies showed renal tubular acidosis and hearing impairment in addition to cholestasis. Genetic studies showed a homozygous mutation in the VIPAS39 gene. Making the definite diagnosis of the syndrome is important, while increased risk of mutation in other siblings highlights the importance of prenatal diagnosis.
authors.affiliation: Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Majid
authors.initials: M
authors.lastname: Aflatounian
authors.affiliation: UCL Institute of Child Health and MRC Laboratory for Molecular Cell Biology, Great Ormond Street Hospital for Children, London, UK.
authors.forename: Holly
authors.initials: H
authors.lastname: Smith
authors.affiliation: Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Farahani
authors.affiliation: Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Azam
authors.initials: A
authors.lastname: Tofighi Naeem
authors.affiliation: UCL Institute of Child Health and MRC Laboratory for Molecular Cell Biology, Great Ormond Street Hospital for Children, London, UK.
authors.forename: Anna
authors.initials: A
authors.lastname: Straatman-Iwanowska
authors.affiliation: Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Samaneh
authors.initials: S
authors.lastname: Zoghi
authors.affiliation: UCL Institute of Child Health and MRC Laboratory for Molecular Cell Biology, Great Ormond Street Hospital for Children, London, UK.
authors.forename: Urvi
authors.initials: U
authors.lastname: Khatri
authors.affiliation: Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Parisa
authors.initials: P
authors.lastname: Tajdini
authors.affiliation: Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Gholam Hossein
authors.initials: GH
authors.lastname: Fallahi
authors.affiliation: UCL Institute of Child Health and MRC Laboratory for Molecular Cell Biology, Great Ormond Street Hospital for Children, London, UK.
authors.forename: Paul
authors.initials: P
authors.lastname: Gissen
authors.affiliation: Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. Electronic address: rezaei_nima@tums.ac.ir.
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000141:Acidosis, Renal Tubular / Q000235:genetics* / Q000473:pathology; D001176:Arthrogryposis / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002779:Cholestasis / Q000235:genetics* / Q000473:pathology; D002780:Cholestasis, Intrahepatic / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D011296:Prenatal Diagnosis; D051437:Renal Insufficiency / Q000235:genetics* / Q000473:pathology; D017422:Sequence Analysis, DNA; D035781:Siblings; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: C539711:VIPAS39 protein, human; D033921:Vesicular Transport Proteins
keywords: Cholestasis; Mutation; Prenatal diagnosis; Syndrome