Title : Clinical and genetic characterization of Chanarin-Dorfman syndrome. - Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
Author(s) : Bruno C , Bertini E , Di Rocco M , Cassandrini D , Ruffa G , De Toni T , Seri M , Spada M , Li Volti G , D'Amico A , Trucco F , Arca M , Casali C , Angelini C , Dimauro S , Minetti C |
Ref : Biochemical & Biophysical Research Communications , 369 :1125 , 2008 |
Abstract :
We describe the clinical features, muscle pathology features, and molecular studies of seven patients with Chanarin-Dorfman syndrome (CDS) or neutral lipid storage disease and ichthyosis (NLSDI), a multisystem triglyceride storage disease with massive accumulation of lipid droplets in muscle fibers. All patients presented with congenital ichthyosiform erythroderma, cytoplasmic lipid droplets in blood cells, mild to severe hepatomegaly, and increased serum CK levels and liver enzymes. Three patients showed muscle symptoms and three had steathorrea. Molecular analysis identified five mutations, three of which are novel. These findings expand the clinical and mutational spectrum and underline the genetic heterogeneity of this disease. |
PubMedSearch : Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
PubMedID: 18339307 |
Gene_locus related to this paper: human-ABHD5 |
Mutation | S33X_human-ABHD5 V225CfsX4_human-ABHD5 R184X_human-ABHD5 R297X_human-ABHD5 IVS4-1G>A_human-ABHD5 |
Gene_locus | human-ABHD5 |
Disease | Chanarin-Dorfman syndrome |
Bruno C, Bertini E, Di Rocco M, Cassandrini D, Ruffa G, De Toni T, Seri M, Spada M, Li Volti G, D'Amico A, Trucco F, Arca M, Casali C, Angelini C, Dimauro S, Minetti C (2008)
Clinical and genetic characterization of Chanarin-Dorfman syndrome.
Biochemical & Biophysical Research Communications
369 :1125
Bruno C, Bertini E, Di Rocco M, Cassandrini D, Ruffa G, De Toni T, Seri M, Spada M, Li Volti G, D'Amico A, Trucco F, Arca M, Casali C, Angelini C, Dimauro S, Minetti C (2008)
Biochemical & Biophysical Research Communications
369 :1125