title: [New mutation in a young woman diagnosed with Niemann-Pick disease type C].
abstract: OBJECTIVE
  To describe a new molecular variant of Niemann-Pick disease type C (NPC) in a 27 year-old patient with splenomegaly and abolition of osteotendinous reflexes.
  
  
  METHODS
  NPC1 is the main gene with described mutation in NPC disease. Here we report a case with a new mutation, p.N916S, not described before in a patient diagnosed with NPC.
  
  
  RESULTS
  p.N916S was described as a cause of NPC disease by predictive programmes Mutation Master, PolyPhen2 and SIFT.
  
  
  CONCLUSIONS
  p.N916S is a new mutation detected as a cause of NPC disease in a patient without severe neurological symptoms.
authors.affiliation: Servicio de Hematología y Hemoterapia, Hospital Universitario Puerta de Hierro, Majadahonda, Madrid, España. Electronic address: ana.lario@gmail.com.
authors.forename: Ana
authors.initials: A
authors.lastname: Lario
authors.affiliation: Servicio de Hematología y Hemoterapia, Hospital Universitario Puerta de Hierro, Majadahonda, Madrid, España.
authors.forename: Carlos
authors.initials: C
authors.lastname: de Miguel
authors.affiliation: Servicio de Hematología y Hemoterapia, Hospital Universitario Puerta de Hierro, Majadahonda, Madrid, España.
authors.forename: Emilio
authors.initials: E
authors.lastname: Ojeda
authors.affiliation: Servicio de Hematología y Hemoterapia, Hospital Universitario Puerta de Hierro, Majadahonda, Madrid, España.
authors.forename: Santiago
authors.initials: S
authors.lastname: Gil
authors.affiliation: Centro de Diagnóstico Biomédico, Hospital Clínic, Barcelona, España.
authors.forename: María J
authors.initials: MJ
authors.lastname: Coll
authors.affiliation: Departamento de Bioquímica y Biología Celular y Molecular, Universidad de Zaragoza, Zaragoza, España.
authors.forename: Pilar
authors.initials: P
authors.lastname: Alfonso
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D000077296:Niemann-Pick C1 Protein; D052556:Niemann-Pick Disease, Type C / Q000175:diagnosis / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D005819:Genetic Markers; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein
keywords: Genetics; Genética; Genética molecular; Haematology (including blood transfusion); Hematología (incluida transfusión sanguínea); Lipid disorders; Molecular genetics; Neurooftalmología; Neuroophtalmology; Trastornos de lípidos