A novel mutation in the

Adolescent Adult Aged Alexander Disease / diagnosis Female Glial Fibrillary Acidic Protein / genetics Humans Magnetic Resonance Imaging Male Middle Aged Mutation / genetics Pedigree Phenotype Exome Sequencing Young Adult
GFAP WES alexander disease astrocyte hypertrophy

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
12 2019
Historique:
received: 20 12 2018
revised: 21 03 2019
accepted: 29 03 2019
pubmed: 21 4 2019
medline: 1 7 2020
entrez: 21 4 2019
Statut: ppublish

Résumé

Alexander disease, an autosomal dominant leukodystrophy, is caused by missense mutations in A family affected by adult-onset spastic paraplegia underwent neurological examination and cerebral MRI. Two patients were sequenced by whole exome sequencing (WES). A candidate variant was functionally tested in an astrocytoma cell line. The novel variant in We suggest that this variant causes variable expressivity and an attenuated phenotype of Alexander disease type II, probably associated with alternative pathogenic mechanisms, that is, astrocyte enlargement.

Sections du résumé

BACKGROUND
Alexander disease, an autosomal dominant leukodystrophy, is caused by missense mutations in
METHODS
A family affected by adult-onset spastic paraplegia underwent neurological examination and cerebral MRI. Two patients were sequenced by whole exome sequencing (WES). A candidate variant was functionally tested in an astrocytoma cell line.
RESULTS
The novel variant in
CONCLUSION
We suggest that this variant causes variable expressivity and an attenuated phenotype of Alexander disease type II, probably associated with alternative pathogenic mechanisms, that is, astrocyte enlargement.

Identifiants

DOI: 10.1136/jmedgenet-2018-105959 PMID: 31004048
pubmed: 31004048
pii: jmedgenet-2018-105959
doi: 10.1136/jmedgenet-2018-105959
doi:

Substances chimiques

GFAP protein, human 0
Glial Fibrillary Acidic Protein 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

846-849

Informations de copyright

© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Carlos Casasnovas (C)

Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain.
Neurometabolic Diseases Laboratory, Institut d'Investigacio Biomedica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain.
Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.

Edgard Verdura (E)

Neurometabolic Diseases Laboratory, Institut d'Investigacio Biomedica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain.
Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
ORCID: 0000-0003-3856-2060

Valentina Vélez (V)

Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain.
Neurometabolic Diseases Laboratory, Institut d'Investigacio Biomedica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain.

Agatha Schlüter (A)

Neurometabolic Diseases Laboratory, Institut d'Investigacio Biomedica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain.
Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.

Albert Pons-Escoda (A)

Neuroradiology Unit, Institut de Diagnòstic per la Imatge-IDI, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain.

Christian Homedes (C)

Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain.

Montserrat Ruiz (M)

Neurometabolic Diseases Laboratory, Institut d'Investigacio Biomedica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain.
Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.

Stéphane Fourcade (S)

Neurometabolic Diseases Laboratory, Institut d'Investigacio Biomedica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain.
Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.

Nathalie Launay (N)

Neurometabolic Diseases Laboratory, Institut d'Investigacio Biomedica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain.
Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.

Aurora Pujol (A)

Neurometabolic Diseases Laboratory, Institut d'Investigacio Biomedica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain apujol@idibell.cat.
Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Catalonia, Spain.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › A novel mutation in the
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › A novel mutation in the
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › A novel mutation in the
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Encéphalopathies métaboliques congénitales › Maladies démyélinisantes héréditaires du système nerveux central › Maladie d'Alexander › A novel mutation in the
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du cytosquelette › Protéines de filaments intermédiaires › Protéine gliofibrillaire acide › A novel mutation in the
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A novel mutation in the
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Tomographie › Imagerie par résonance magnétique › A novel mutation in the
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › A novel mutation in the
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › A novel mutation in the
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › A novel mutation in the
questionsmedicales.fr › Phénomènes génétiques › Phénotype › A novel mutation in the
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome › A novel mutation in the
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Jeune adulte › A novel mutation in the