Article
Clinical and molecular genetic features of ARC syndrome.
Human genetics - 1 Oct 2006
Gissen Paul, Tee Louise, Johnson Colin A, Genin Emmanuelle, Caliebe Almuth, Chitayat David, Clericuzio Carol, Denecke Jonas, Di Rocco Maja, Fischler Björn, FitzPatrick David, García-Cazorla Angeles, Guyot Delphine, Jacquemont Sebastien, Koletzko Sibylle, Leheup Bruno, Mandel Hanna, Sanseverino Maria Teresa Vieira, Houwen Roderick H J, McKiernan Patrick J, Kelly Deirdre A, Maher Eamonn R
Abstract excerpt
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (MIM 208085) is an autosomal recessive multisystem disorder that may be associated with germline VPS33B mutations. VPS33B is involved in regulation of vesicular membrane fusion by interacting with SNARE proteins, and evidence of abnormal polarised membrane protein trafficking has been reported in ARC patients. We characterised clinical and molecular...
Topics
- Abnormalities, Multiple
- Amino Acid Sequence
- Arthrogryposis
- Cholestasis
- DNA Mutational Analysis
- Genotype
- Humans
- Infant
- Infant, Newborn