[New mutation in a young woman diagnosed with Niemann-Pick disease type C]

Med Clin (Barc). 2016 Jun 3;146(11):494-6. doi: 10.1016/j.medcli.2016.01.031. Epub 2016 Mar 23.
[Article in Spanish]


Background and objetive: 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.

Material and 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.

Keywords: Genetics; Genética; Genética molecular; Haematology (including blood transfusion); Hematología (incluida transfusión sanguínea); Lipid disorders; Molecular genetics; Neurooftalmología; Neuroophtalmology; Trastornos de lípidos.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Carrier Proteins / genetics*
  • Female
  • Genetic Markers
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Membrane Glycoproteins / genetics*
  • Mutation*
  • Niemann-Pick C1 Protein
  • Niemann-Pick Disease, Type C / diagnosis
  • Niemann-Pick Disease, Type C / genetics*


  • Carrier Proteins
  • Genetic Markers
  • Intracellular Signaling Peptides and Proteins
  • Membrane Glycoproteins
  • NPC1 protein, human
  • Niemann-Pick C1 Protein