Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a fatal multisystem disorder that causes neonatal intrahepatic cholestasis. It also exhibits notable clinical variability showing anemia, ichthyosis, and diarrhoea. Mutations in VPS33B have been found in 75% cases of ARC syndrome. Individuals without VPS33B defects have mutations in VIPAR that forms a functional complex with VPS33B.
Cullinane AR, Straatman-Iwanowska A, Zaucker A, Wakabayashi Y, Bruce CK, Luo G, Rahman F, Gurakan F, Utine E, Ozkan TB, Denecke J, Vukovic J, Di Rocco M, Mandel H, Cangul H, Matthews RP, Thomas SG, Rappoport JZ, Arias IM, Wolburg H, Knisely AS, Kelly DA, Muller F, Maher ER, Gissen P
タイトル
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
