title: [The complex phenotype of ARC syndrome: A new case].
abstract: ARC syndrome (arthrogryposis - renal dysfunction - cholestasis) is a rare lethal multisystemic autosomal recessive disease. A newborn of consanguineous parents of Algerian descent presented cholestatic jaundice, dehydration, and Fanconi syndrome at 10 days of life. The blood smear showed a very characteristic gray appearance of platelets. A homozygous mutation was evidenced in the VPS33B gene. This gene codes for a protein involved in trafficking of intracellular vesicles. The mutation (c.604-2A>G) present in the heterozygous state in the parents affects an invariant base of the splice acceptor site and to our knowledge has not been reported yet. This child died at the age of 3 months. Prenatal diagnosis was offered to the family; another pregnancy was carried to completion and a girl was born without the disease. The combination of cholestasis and proximal tubulopathy should suggest the diagnosis in a newborn with orthopedic problems. A blood smear greatly facilitates diagnosis.
authors.affiliation: Pôle Mère-Enfant, service de réanimation néonatale et pédiatrique, hôpital Nord, centre hospitalier universitaire de Saint-Étienne, 42055 Saint-Étienne cedex 2, France. Electronic address: antoinegiraud.sp@gmail.com.
authors.forename: A
authors.initials: A
authors.lastname: Giraud
authors.affiliation: Service de génétique clinique, chromosomique, et moléculaire, hôpital Nord, centre hospitalier universitaire de Saint-Étienne, 42055 Saint-Étienne cedex 2, France.
authors.forename: F
authors.initials: F
authors.lastname: Ramond
authors.affiliation: Pôle Mère-Enfant, service de réanimation néonatale et pédiatrique, hôpital Nord, centre hospitalier universitaire de Saint-Étienne, 42055 Saint-Étienne cedex 2, France.
authors.forename: C
authors.initials: C
authors.lastname: Cremillieux
authors.affiliation: Service de génétique clinique, chromosomique, et moléculaire, hôpital Nord, centre hospitalier universitaire de Saint-Étienne, 42055 Saint-Étienne cedex 2, France.
authors.forename: R
authors.initials: R
authors.lastname: Touraine
authors.affiliation: Pôle Mère-Enfant, service de réanimation néonatale et pédiatrique, hôpital Nord, centre hospitalier universitaire de Saint-Étienne, 42055 Saint-Étienne cedex 2, France.
authors.forename: H
authors.initials: H
authors.lastname: Patural
authors.affiliation: Pôle Mère-Enfant, service d'immuno-hématologie et oncologie pédiatrique, hôpital Nord, centre hospitalier universitaire de Saint-Étienne, 42055 Saint-Étienne cedex 2, France.
authors.forename: J-L
authors.initials: JL
authors.lastname: Stephan
mesh_terms: D001176:Arthrogryposis / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D002779:Cholestasis / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D003241:Consanguinity; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D035583:Rare Diseases; D051437:Renal Insufficiency / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D033921:Vesicular Transport Proteins / Q000235:genetics
chemical_list: C411584:VPS33B protein, human; D033921:Vesicular Transport Proteins