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Genetic map of Wilson disease in Spain – A great tool to improve diagnosis and screening

Fecha de publicación:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Alonso-Castellano P.
  • Mariño Z.
  • Tugores A.
  • Olveira A.
  • Ampuero J.
  • Fernández-Ramos J.R.
  • Moreno-Planas J.M.
  • Lázaro-Ríos M.
  • Masnou H.
  • González-Diéguez M.L.
  • Pinazo-Bandera J.M.
  • Molina-Pérez E.
  • Hernández-Guerra M.
  • Romero-Gutiérrez M.
  • Fernández-Álvarez P.
  • Muñoz C.
  • Lorente S.
  • Cachero A.
  • Delgado-Blanco M.
  • Vargas V.
  • Gómez-Camarero J.
  • Cuenca F.
  • Ibáñez-Samaniego L.
  • Fernández-Bermejo M.
  • Álvarez-Suárez B.
  • Iruzubieta P.
  • Arencibia-Almeida A.
  • García-Villarreal L.

Grupos

Abstract

Wilson disease (WD) is a rare genetic disease secondary to mutations in the ATP7B gene, which encodes a protein involved in copper excretion. There are more than 1000 different mutations among patients and diagnosis is sometimes difficult. Without treatment, WD leads to death but there are therapies that are so effective and offer a normal life to patients, if started early. Every population shows different mutations, so a genetic map of every country is very important for patients and physicians, to reach early diagnosis and therapy with the best prognosis for patients. © Arán Ediciones S.L.

Datos de la publicación

ISSN/ISSNe:
1130-0108, 2340-4167

REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS  ARAN EDICIONES, S A

Tipo:
Article
Páginas:
249-255
PubMed:
39930861
Enlace a otro recurso:
www.scopus.com
Factor de Impacto:
0,301 SCImago ℠
Cuartil:
Q3 SCImago ℠

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Keywords

  • Adolescent; Adult; Child; Copper-Transporting ATPases; Female; Genetic Testing; Hepatolenticular Degeneration; Humans; Male; Mutation; Registries; Spain; Young Adult; ATP7B protein, human; copper exporting adenosine triphosphatase; adult; aged; allele; Article; chronic liver disease; diagnostic error; DNA sequence; exon; female; gene frequency; gene mapping; gene mutation; genetic analysis; genetic screening; genetic variability; genotype; geographic distribution; histology; homozygosity; human; intron; loss of function mutation; major clinical study; male; multicenter study; observational study; phenotype; prevalence; retrospective study; Sanger sequencing; Wilson disease; adolescent; child; clinical trial; diagnosis; epidemiology; genetic screening; genetics; mutation; register; Spain; young adult

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