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Updated: Mar 23, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[New mutation in a young woman diagnosed with Niemann-Pick disease type C]
Ana Lario1, Carlos de Miguel1, Emilio Ojeda1
1Servicio de Hematología y Hemoterapia, Hospital Universitario Puerta de Hierro, Majadahonda, Madrid, España.
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.
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