Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.
FSHD
Facioscapulohumeral muscular dystrophy
association
correlation
genotype
methylation
phenotype
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
23 Mar 2020
23 Mar 2020
Historique:
received:
27
01
2020
revised:
20
03
2020
accepted:
21
03
2020
entrez:
27
3
2020
pubmed:
27
3
2020
medline:
15
12
2020
Statut:
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,
Identifiants
pubmed: 32210100
pii: ijms21062221
doi: 10.3390/ijms21062221
pmc: PMC7139460
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Association Française contre les Myopathies
ID : 10906
Références
Muscle Nerve Suppl. 1995;2:S103-9
pubmed: 7739619
J Chronic Dis. 1960 Aug;12:273-90
pubmed: 13842210
Am J Hum Genet. 2013 Oct 3;93(4):744-51
pubmed: 24075187
Orphanet J Rare Dis. 2015 Jan 21;10:2
pubmed: 25603992
Hum Mol Genet. 2015 Feb 1;24(3):659-69
pubmed: 25256356
Neurol Genet. 2019 Nov 14;5(6):e372
pubmed: 31872053
Curr Opin Neurol. 2012 Oct;25(5):614-20
pubmed: 22892954
J Hum Genet. 2012 Aug;57(8):477-84
pubmed: 22718021
Nucleic Acids Res. 2019 Apr 8;47(6):2822-2839
pubmed: 30698748
BMJ Open. 2016 Jan 05;6(1):e007798
pubmed: 26733561
Ann Neurol. 1999 Jun;45(6):751-7
pubmed: 10360767
Brain. 2013 Nov;136(Pt 11):3408-17
pubmed: 24030947
Arch Neurol. 1994 Apr;51(4):387-94
pubmed: 8155016
Neurology. 2014 Aug 19;83(8):733-42
pubmed: 25031281
Trends Genet. 2017 Apr;33(4):233-243
pubmed: 28222895
Neurology. 2014 Sep 16;83(12):1056-9
pubmed: 25122204
Am J Hum Genet. 2012 Apr 6;90(4):628-35
pubmed: 22482803
Neuromuscul Disord. 2008 Jul;18(7):579-82
pubmed: 18586493
Neurology. 2013 Jan 22;80(4):392-9
pubmed: 23284062
Curr Opin Genet Dev. 2015 Aug;33:56-61
pubmed: 26356006
Science. 2010 Sep 24;329(5999):1650-3
pubmed: 20724583
Mutat Res. 2008 Dec 1;647(1-2):94-102
pubmed: 18723032
Clin Genet. 2009 Jun;75(6):550-5
pubmed: 19320656
PLoS One. 2015 Feb 19;10(2):e0117665
pubmed: 25695429
Am J Hum Genet. 1992 Aug;51(2):396-403
pubmed: 1642237
Hum Mol Genet. 2015 Mar 1;24(5):1256-66
pubmed: 25326393
Neuromuscul Disord. 1991;1(4):231-4
pubmed: 1822799
Neuromuscul Disord. 2012 Apr;22(4):339-49
pubmed: 22357364
Muscle Nerve. 1981 May-Jun;4(3):186-97
pubmed: 7017401
Ann Neurol. 1996 Jun;39(6):744-8
pubmed: 8651646
Neuromuscul Disord. 2005 Jul;15(7):463-70
pubmed: 16106528
Neurology. 2015 Dec 15;85(24):2147-50
pubmed: 26561289
Neuromuscul Disord. 2010 Jul;20(7):471-5
pubmed: 20554202
Neuromuscul Disord. 2008 Nov;18(11):881-5
pubmed: 18684626
Neuromuscul Disord. 1995 May;5(3):201-8
pubmed: 7633185
Chin Med J (Engl). 2015 Jul 5;128(13):1707-13
pubmed: 26112708