Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.
Journal
Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068
Informations de publication
Date de publication:
Feb 2021
Feb 2021
Historique:
received:
24
05
2020
accepted:
21
10
2020
entrez:
30
12
2020
pubmed:
31
12
2020
medline:
31
12
2020
Statut:
epublish
Résumé
Genetic diagnosis and mutation identification are now compulsory for Duchenne (DMD) and Becker muscular dystrophies (BMD), which are due to dystrophin ( We performed a full DMD mutation detection in 328 patients from 10 Eastern European countries (Poland, Hungary, Lithuania, Romania, Serbia, Croatia, Bosnia, Bulgaria, Ukraine, and Russia) and 2 non-European countries (Cyprus and Algeria). We used both conventional methods (multiplex ligation-dependent probe amplification [MLPA] followed by gene-specific sequencing) and whole-exome sequencing (WES) as a pivotal study ran in 28 patients where We identified Our data provide unreported mutation landscapes in different countries, suggesting that ethnicity may orient genetic diagnosis flowchart, which can be adjusted depending on the mutation type frequency, with impact in drug eligibility.
Identifiants
pubmed: 33376799
doi: 10.1212/NXG.0000000000000536
pii: NG2020014407
pmc: PMC7768913
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e536Informations de copyright
© 2020 American Academy of Neurology.
Références
J Clin Med. 2019 May 10;8(5):
pubmed: 31083420
Lancet Neurol. 2018 Mar;17(3):251-267
pubmed: 29395989
Neuromuscul Disord. 2013 Jun;23(6):478-82
pubmed: 23541687
J Hum Genet. 2017 Oct;62(10):871-876
pubmed: 28566768
Hum Mol Genet. 2018 Aug 1;27(R2):R163-R172
pubmed: 29771317
Lancet. 2017 Sep 23;390(10101):1489-1498
pubmed: 28728956
Muscle Nerve. 2017 Jul;56(1):129-135
pubmed: 27759885
J Clin Immunol. 2016 May;36 Suppl 1:68-75
pubmed: 26993986
Neurol Clin. 2014 Aug;32(3):569-93, vii
pubmed: 25037080
Genome Med. 2017 Oct 25;9(1):90
pubmed: 29070057
Nucleic Acid Ther. 2017 Oct;27(5):251-259
pubmed: 28796573
Molecules. 2017 Apr 05;22(4):
pubmed: 28379182
Lancet Neurol. 2016 Jul;15(8):882-890
pubmed: 27302365
Hum Mutat. 2009 Jun;30(6):934-45
pubmed: 19367636
Drugs. 2016 Nov;76(17):1699-1704
pubmed: 27807823
Hum Mutat. 2015 Apr;36(4):395-402
pubmed: 25604253
Front Genet. 2020 Mar 03;11:131
pubmed: 32194622
Cancer Res. 2017 Nov 1;77(21):e31-e34
pubmed: 29092934
J Pediatr. 2019 Jan;204:305-313.e14
pubmed: 30579468
J Appl Genet. 2017 Aug;58(3):343-347
pubmed: 28247318
Hum Mutat. 2011 Mar;32(3):299-308
pubmed: 21972111
Neuromuscul Disord. 2010 Jun;20(6):422-7
pubmed: 20466545
Molecules. 2015 Oct 07;20(10):18168-84
pubmed: 26457695
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
J Clin Med. 2019 May 08;8(5):
pubmed: 31071994
J Pers Med. 2019 Jan 07;9(1):
pubmed: 30621068
Pediatr Neurol. 2006 Aug;35(2):145-9
pubmed: 16876015
Am J Public Health. 1998 Sep;88(9):1303-7
pubmed: 9736867
Epilepsy Res. 2015 Mar;111:10-7
pubmed: 25769368
Neuromuscul Disord. 2019 Aug;29(8):644-650
pubmed: 31400830
Curr Protoc Hum Genet. 2016 Jul 01;90:7.13.1-7.13.19
pubmed: 27367167
Lancet Neurol. 2003 Dec;2(12):731-40
pubmed: 14636778
Eur J Hum Genet. 2020 Sep;28(9):1141-1159
pubmed: 32424326