Molecular and Genetic Medicine

CHU de Bordeaux, Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, F-33000, Bordeaux, France

Publications

• Research Article   
  A Novel Non-Sense Mutation in a Senegalese Patient with Hermansky-Pudlak Type 1 Syndrome
  Author(s): Ndiaye R*, Dia Y, Lasseaux E, Mbaye S, Plaisant C, Diop JPD, Ba SA, Mbengue B, Ly F, Arveiler B and Dieye A
  
  Hermansky-Pudlak syndrome (HPS) is a rare inherited multisystem disorder characterized by oculocutaneous albinism and diathesis, and in some patients with pulmonary fibrosis. It is caused by defective biogenesis and trafficking of lysosome-related organelles. Genetically HPS is heterogeneous, and ten loci have been identified as causative genes. The majority of these genes encode subunits of multi-protein complexes named biogenesis of lysosomes-related organelles complex. Mutations within HPS1 and HPS4 genes lead to pulmonary fibrosis in HPS type1 and type 4 patients respectively and are the leading cause of mortality. A 14 years Senegalese boy who was initially diagnosed with oculocutaneous albinism was recruited with his father after informed consent for genetic analysis. In his clinical history, there was no bleeding tendency or clinical episodes of hemo.. Read More»
  

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