Repurposing Pathogenic Variants of
Duchenne Muscular Dystrophy (DMD)
MLPA
dystrophin
exon skipping
neuromuscular disorder
pathogenic variants
Journal
Current genomics
ISSN: 1389-2029
Titre abrégé: Curr Genomics
Pays: United Arab Emirates
ID NLM: 100960527
Informations de publication
Date de publication:
Nov 2019
Nov 2019
Historique:
entrez:
14
7
2020
pubmed:
14
7
2020
medline:
14
7
2020
Statut:
ppublish
Résumé
Duchenne Muscular Dystrophy (DMD) is a progressive, fatal neuromuscular disorder caused by mutations in Population-based A total of 100 DMD cases were recruited and Multiplex ligation-dependent probe amplification (MLPA) analysis was performed to obtain the deletion and duplication profile. Copy number variations (deletion/duplication) were found in 80.85% of unrelated DMD cases. Sixty-eight percent of cases were found to have variations in the distal hotspot region (Exon 45-55) of the A major proportion of DMD subjects (80%) could be diagnosed by the MLPA technique. The data generated from our study may be beneficial for strengthening of mutation database in the North Indian population.
Sections du résumé
BACKGROUND
BACKGROUND
Duchenne Muscular Dystrophy (DMD) is a progressive, fatal neuromuscular disorder caused by mutations in
OBJECTIVES
OBJECTIVE
Population-based
METHODS
METHODS
A total of 100 DMD cases were recruited and Multiplex ligation-dependent probe amplification (MLPA) analysis was performed to obtain the deletion and duplication profile.
RESULTS
RESULTS
Copy number variations (deletion/duplication) were found in 80.85% of unrelated DMD cases. Sixty-eight percent of cases were found to have variations in the distal hotspot region (Exon 45-55) of the
CONCLUSION
CONCLUSIONS
A major proportion of DMD subjects (80%) could be diagnosed by the MLPA technique. The data generated from our study may be beneficial for strengthening of mutation database in the North Indian population.
Identifiants
pubmed: 32655290
doi: 10.2174/1389202920666191107142754
pii: CG-20-519
pmc: PMC7327972
doi:
Types de publication
Journal Article
Langues
eng
Pagination
519-530Informations de copyright
© 2019 Bentham Science Publishers.
Références
S Afr Med J. 1994 Aug;84(8 Pt 1):494-7
pubmed: 7825085
Hum Mutat. 2015 Apr;36(4):395-402
pubmed: 25604253
Hum Genet. 1990 Nov;86(1):45-8
pubmed: 2253937
Nucleic Acids Res. 2002 Jun 15;30(12):e57
pubmed: 12060695
Genet Mol Res. 2016 Jul 14;15(2):
pubmed: 27421007
Indian J Med Res. 2010 Sep;132:303-11
pubmed: 20847377
J Clin Neurol. 2017 Jan;13(1):91-97
pubmed: 28079318
Mol Biol Evol. 2011 Jul;28(7):1957-62
pubmed: 21266489
Proc Natl Acad Sci U S A. 1993 Apr 15;90(8):3710-4
pubmed: 8475120
Behav Brain Funct. 2008 Apr 29;4:20
pubmed: 18445268
Nature. 1989 Jan 5;337(6202):76-8
pubmed: 2909892
J Korean Med Sci. 2012 Mar;27(3):274-80
pubmed: 22379338
Neuromuscul Disord. 2000 Mar;10(3):194-9
pubmed: 10734267
Neurol India. 2011 Nov-Dec;59(6):803-9
pubmed: 22234189
Nucleic Acids Res. 1988 Dec 9;16(23):11141-56
pubmed: 3205741
J Neurol. 2019 Sep;266(9):2177-2185
pubmed: 31139960
Nucleic Acid Ther. 2017 Feb;27(1):1-3
pubmed: 27929755
Cell. 1987 Dec 24;51(6):919-28
pubmed: 3319190
Hum Mol Genet. 1995 May;4(5):837-42
pubmed: 7633443
J Med Genet. 2016 Mar;53(3):145-51
pubmed: 26754139
Eur J Hum Genet. 2005 Nov;13(11):1231-4
pubmed: 16030524
Nucleic Acid Ther. 2014 Feb;24(1):57-68
pubmed: 24380394
Indian J Pediatr. 2009 Oct;76(10):1007-12
pubmed: 19907931
Nat Genet. 1993 May;4(1):77-81
pubmed: 8513330
Neurol India. 2017 Sep-Oct;65(5):969-970
pubmed: 28879877
Am J Hum Genet. 1989 Dec;45(6):835-47
pubmed: 2573997
Eur J Hum Genet. 2016 Apr;24(4):562-8
pubmed: 26081639
Hum Genet. 1996 Feb;97(2):232-9
pubmed: 8566960
Lancet. 2013 Mar 9;381(9869):845-60
pubmed: 23465426
Hum Mutat. 2006 Aug;27(8):814-21
pubmed: 16791841
J Mol Diagn. 2005 Aug;7(3):317-26
pubmed: 16049303
Neurol India. 2009 Nov-Dec;57(6):734-8
pubmed: 20139501
Cell. 1987 Jul 31;50(3):509-17
pubmed: 3607877