Titre
Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.
Type
article
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Salort-Campana, E.
Auteure/Auteur
Fatehi, F.
Auteure/Auteur
Beloribi-Djefaflia, S.
Auteure/Auteur
Roche, S.
Auteure/Auteur
Nguyen, K.
Auteure/Auteur
Bernard, R.
Auteure/Auteur
Cintas, P.
Auteure/Auteur
Solé, G.
Auteure/Auteur
Bouhour, F.
Auteure/Auteur
Ollagnon, E.
Auteure/Auteur
Sacconi, S.
Auteure/Auteur
Echaniz-Laguna, A.
Auteure/Auteur
Kuntzer, T.
Auteure/Auteur
Levy, N.
Auteure/Auteur
Magdinier, F.
Auteure/Auteur
Attarian, S.
Auteure/Auteur
Liens vers les personnes
Liens vers les unités
ISSN
1422-0067
Statut éditorial
Publié
Date de publication
2020-03-23
Volume
21
Numéro
6
Première page
2221
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: epublish
Publication Status: epublish
Résumé
Molecular defects in type 1 facioscapulohumeral muscular dystrophy (FSHD) are caused by a heterozygous contraction of the D4Z4 repeat array from 1 to 10 repeat units (RUs) on 4q35. This study compared (1) the phenotype and severity of FSHD1 between patients carrying 6-8 vs. 9-10 RUs, (2) the amount of methylation in different D4Z4 regions between patients with FSHD1 with different clinical severity scores (CSS). This cross-sectional multicenter study was conducted to measure functional scales and for genetic analysis. Patients were classified into two categories according to RUs: Group 1, 6-8; Group 2, 9-10. Methylation analysis was performed in 27 patients. A total of 99 carriers of a contracted D4Z4 array were examined. No significant correlations between RUs and CSS (r = 0.04, p = 0.73) and any of the clinical outcome scales were observed between the two groups. Hypomethylation was significantly more pronounced in patients with high CSS (>3.5) than those with low CSS (<1.5) (in DR1 and 5P), indicating that the extent of hypomethylation might modulate disease severity. In Group 1, the disease severity is not strongly correlated with the allele size and is mostly correlated with the methylation of D4Z4 regions.
Sujets
PID Serval
serval:BIB_5C6CF1141692
PMID
Open Access
Oui
Date de création
2020-04-01T17:30:00.383Z
Date de création dans IRIS
2025-05-20T18:55:26Z
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Nom
32210100_BIB_5C6CF1141692.pdf
Version du manuscrit
published
Licence
https://creativecommons.org/licenses/by/4.0
Taille
852.3 KB
Format
Adobe PDF
PID Serval
serval:BIB_5C6CF1141692.P001
URN
urn:nbn:ch:serval-BIB_5C6CF11416921
Somme de contrôle
(MD5):970d501335065121920354dd8fbe2259