[New mutation in a young woman diagnosed with Niemann-Pick

Medicina clinica · Jun 2016

Case Reports

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

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. ⋯ p.N916S is a new mutation detected as a cause of NPC disease in a patient without severe neurological symptoms.

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- Ana Lario, Carlos de Miguel, Emilio Ojeda, Santiago Gil, María J Coll, and Pilar Alfonso.
- Servicio de Hematología y Hemoterapia, Hospital Universitario Puerta de Hierro, Majadahonda, Madrid, España. Electronic address: ana.lario@gmail.com.
- Med Clin (Barc). 2016 Jun 3; 146 (11): 494-6.
Background And ObjetiveTo 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 MethodsNPC1 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.Resultsp.N916S was described as a cause of NPC disease by predictive programmes Mutation Master, PolyPhen2 and SIFT.Conclusionsp.N916S is a new mutation detected as a cause of NPC disease in a patient without severe neurological symptoms.Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

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

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