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Inicio Medicina Clínica (English Edition) New mutation in a young woman diagnosed with Niemann–Pick disease type C
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Vol. 146. Issue 11.
Pages 494-496 (June 2016)
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Vol. 146. Issue 11.
Pages 494-496 (June 2016)
Clinical report
DOI: 10.1016/j.medcle.2016.07.003
New mutation in a young woman diagnosed with Niemann–Pick disease type C
Nueva mutación descrita en una mujer joven con esplenomegalia, diagnosticada de enfermedad de Niemann-Pick tipo C
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Ana Larioa,
Corresponding author
ana.lario@gmail.com

Corresponding author.
, Carlos de Miguela, Emilio Ojedaa, Santiago Gila, María J. Collb, Pilar Alfonsoc
a Servicio de Hematología y Hemoterapia, Hospital Universitario Puerta de Hierro, Majadahonda, Madrid, Spain
b Centro de Diagnóstico Biomédico, Hospital Clínic, Barcelona, Spain
c Departamento de Bioquímica y Biología Celular y Molecular, Universidad de Zaragoza, Zaragoza, Spain
Article information
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Abstract
Background and 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.

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:
Lipid disorders
Genetics
Haematology (including blood transfusion)
Molecular genetics
Neuroophtalmology
Resumen
Fundamento y objetivo

Describir una nueva variante molecular del Niemann-Pick tipo C (NPC) en una paciente de 27 años con esplenomegalia y abolición de reflejos osteotendinosos.

Material y métodos

NPC1 es el principal gen mutado en el NPC. Presentamos un caso con una nueva mutación, p.N916S, no descrita previamente en pacientes con NPC.

Resultados

p.N916S fue descrita como causa de la enfermedad de NPC por los programas predictivos Mutation Master, PolyPhen2 y SIFT.

Conclusiones

p.N916S es una nueva mutación detectada como causa de NPC en una paciente sin síntomas neurológicos graves.

Palabras clave:
Trastornos de lípidos
Genética
Hematología (incluida transfusión sanguínea)
Genética molecular
Neurooftalmología

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