Τίτλος:
Niemann-Pick type C disease: A novel NPC1 mutation segregating in a Greek island
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Niemann-Pick type C (NPC) disease is a rare autosomal recessive lysosomal storage disease, exhibiting an extremely heterogeneous clinical phenotype. It is a cellular lipid trafficking disorder characterized by the accumulation in the lysosomal/late endosomal system of a variety of lipids, especially unesterified cholesterol. So far two genes, NPC1 or NPC2, have been linked to the disorder. It is a panethnic disease for which two isolates have been described. We present a novel NPC1 mutation (p.A1132P; c.3394G>C) identified in homozygosity in two patients originating from the same small town of an Aegean Sea island and the results of the broad screening of their extended families. Overall 153 individuals have so far been investigated and a total of 64 carriers were identified. Moreover a common descent of the individuals tested was revealed and all carriers could be traced back to a common surname, apparently originating from a common ancestor couple six generations back. The mutation was found associated with an uncommon haplotype in the island that is also present in other populations. © 2013 John Wiley & Sons A/S.
Συγγραφείς:
Mavridou, I.
Cozar, M.
Douzgou, S.
Xaidara, A.
Lianou, D.
Vanier, M.T.
Dimitriou, E.
Grinberg, D.
Vilageliu, L.
Michelakakis, H.
Περιοδικό:
Application of Clinical Genetics
Εκδότης:
Wiley-Blackwell Publishing Ltd
Λέξεις-κλειδιά:
chitotriosidase; miglustat; carrier protein; membrane protein; NPC1 protein, human, article; case report; child; controlled study; exon; female; gait disorder; gaze paralysis; gene; gene sequence; genome; Greece; haplotype; hepatosplenomegaly; homozygosity; human; hypertransaminasemia; intrauterine growth retardation; jaundice; male; mental deficiency; missense mutation; muscle atrophy; muscle hypotonia; Niemann Pick disease; Niemann Pick type C disease; Npc1 gene; phototherapy; point mutation; preschool child; priority journal; single nucleotide polymorphism; splenomegaly; tendon reflex; tremor; adult; epidemiology; genetics; heterozygote; homozygote; island (geological); mutation; Niemann-Pick Disease, Type C; pathophysiology; pedigree, Adult; Carrier Proteins; Child; Child, Preschool; Female; Greece; Haplotypes; Heterozygote; Homozygote; Humans; Islands; Male; Membrane Glycoproteins; Mutation; Niemann-Pick Disease, Type C; Pedigree
