Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual Disability.
MLPA
diagnostic
global developmental delay
intellectual disability
Journal
International journal of general medicine
ISSN: 1178-7074
Titre abrégé: Int J Gen Med
Pays: New Zealand
ID NLM: 101515487
Informations de publication
Date de publication:
2021
2021
Historique:
received:
21
05
2021
accepted:
15
07
2021
entrez:
25
8
2021
pubmed:
26
8
2021
medline:
26
8
2021
Statut:
epublish
Résumé
Genetic testing has become a standardized practice in the diagnosis of patients with global developmental delay/intellectual disability (GDD/ID). The aim of this study is to observe the frequency of recurrent copy number variations (CNVs) in patients diagnosed with GDD/ID, using MLPA technique. A total of 501 paediatric patients with GDD/ID were analysed using SALSA MLPA probemix P245 Microdeletion Syndromes-1A, and the technical steps were performed according to the MRC Holland MLPA general protocol. Twenty-five of 501 patients (5%) were diagnosed with a microdeletion/microduplication syndrome. Amongst them, 7 of 25 (30%) with clinical suggestion have a confirmed diagnosis, for the other cases the clinical features were not evocative for a specific syndrome. This study showed that in cases with a specific clinical diagnosis the MLPA technique could be a useful alternative, less expensive and more efficient to indicate as first intention of a targeted diagnostic test, as it is the case of Williams syndrome, Prader-Willi syndrome or DiGeorge syndrome.
Sections du résumé
BACKGROUND
BACKGROUND
Genetic testing has become a standardized practice in the diagnosis of patients with global developmental delay/intellectual disability (GDD/ID). The aim of this study is to observe the frequency of recurrent copy number variations (CNVs) in patients diagnosed with GDD/ID, using MLPA technique.
METHODS
METHODS
A total of 501 paediatric patients with GDD/ID were analysed using SALSA MLPA probemix P245 Microdeletion Syndromes-1A, and the technical steps were performed according to the MRC Holland MLPA general protocol.
RESULTS
RESULTS
Twenty-five of 501 patients (5%) were diagnosed with a microdeletion/microduplication syndrome. Amongst them, 7 of 25 (30%) with clinical suggestion have a confirmed diagnosis, for the other cases the clinical features were not evocative for a specific syndrome.
CONCLUSION
CONCLUSIONS
This study showed that in cases with a specific clinical diagnosis the MLPA technique could be a useful alternative, less expensive and more efficient to indicate as first intention of a targeted diagnostic test, as it is the case of Williams syndrome, Prader-Willi syndrome or DiGeorge syndrome.
Identifiants
pubmed: 34429637
doi: 10.2147/IJGM.S320033
pii: 320033
pmc: PMC8378908
doi:
Types de publication
Journal Article
Langues
eng
Pagination
4511-4515Informations de copyright
© 2021 Miclea et al.
Déclaration de conflit d'intérêts
The authors report no conflicts of interest.
Références
J Intellect Disabil Res. 2014 Jul;58(7):591-602
pubmed: 23750884
Genet Med. 2009 Mar;11(3):139-46
pubmed: 19367186
Pediatr Neonatol. 2019 Aug;60(4):453-460
pubmed: 30581099
Eur J Hum Genet. 2016 Jan;25(1):66-72
pubmed: 27650969
Pediatrics. 2014 Sep;134(3):e903-18
pubmed: 25157020
Neuron. 2006 Oct 5;52(1):103-21
pubmed: 17015230
Ann Lab Med. 2015 Sep;35(5):510-8
pubmed: 26206688
Mol Cytogenet. 2013 Feb 06;6(1):7
pubmed: 23383958
Pediatr Neurol. 2014 Mar;50(3):250-4
pubmed: 24412240
J Med Genet. 2004 Dec;41(12):892-9
pubmed: 15591274
Eur J Med Genet. 2009 Jul-Aug;52(4):161-9
pubmed: 19362174
Am J Hum Genet. 2010 May 14;86(5):749-64
pubmed: 20466091
Neurology. 2003 Feb 11;60(3):367-80
pubmed: 12578916
Am J Med Genet A. 2015 Jun;167(6):1204-14
pubmed: 25728503
Indian J Hum Genet. 2013 Apr;19(2):165-70
pubmed: 24019617
J Mol Diagn. 2006 Nov;8(5):528-33
pubmed: 17065418
Am J Med Genet A. 2010 Jun;152A(6):1398-410
pubmed: 20503314
Gene. 2013 May 25;521(1):82-6
pubmed: 23524024