Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases.
gastrointestinal diseases
metabolic diseases
pediatric diseases
whole exome sequencing
Journal
The application of clinical genetics
ISSN: 1178-704X
Titre abrégé: Appl Clin Genet
Pays: New Zealand
ID NLM: 101579789
Informations de publication
Date de publication:
2020
2020
Historique:
received:
09
08
2020
accepted:
10
11
2020
entrez:
28
12
2020
pubmed:
29
12
2020
medline:
29
12
2020
Statut:
epublish
Résumé
Four consanguineous Jordanian families with affected members of unknown gastrointestinal related diseases were recruited to assess the utility and efficiency of whole exome sequencing (WES) in reaching the definitive diagnosis. Members from four consanguineous Jordanian families were recruited in this study. Laboratory and imaging tests were used for initial diagnosis, followed by performing WES to test all affected members for the detection of causative variants. Sanger sequencing was used for validation. We had a 100% success rate identifying each case presented in this study. This is the first study applying a WES testing approach in the diagnosis of pediatric diseases in Jordan. Our results strongly suggest the need to implement WES as an evident diagnostic tool in the clinical setting, as it will subsequently allow for proper disease management and genetic counseling.
Identifiants
pubmed: 33364809
doi: 10.2147/TACG.S275992
pii: 275992
pmc: PMC7751587
doi:
Types de publication
Journal Article
Langues
eng
Pagination
221-231Informations de copyright
© 2020 Altamimi et al.
Déclaration de conflit d'intérêts
The authors report no conflicts of interest for this work and declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Can J Gastroenterol Hepatol. 2018 Jul 26;2018:2313675
pubmed: 30148122
Liver Transpl. 2018 Feb;24(2):282-293
pubmed: 29080241
Arch Dis Child Educ Pract Ed. 2010 Apr;95(2):40-6
pubmed: 20351150
Hum Mutat. 2008 Jan;29(1):14-21
pubmed: 17764084
Neurobiol Aging. 2014 Oct;35(10):2422.e13-6
pubmed: 24880964
JAMA Pediatr. 2017 Sep 1;171(9):855-862
pubmed: 28759686
Neurogastroenterol Motil. 2018 Sep;30(9):e13371
pubmed: 29781137
J Clin Endocrinol Metab. 2003 Apr;88(4):1833-41
pubmed: 12679481
Genet Med. 2011 Mar;13(3):255-62
pubmed: 21173700
Genet Med. 2018 Nov;20(11):1396-1404
pubmed: 29790870
Eur J Med Genet. 2020 Sep;63(9):103981
pubmed: 32574610
PLoS One. 2017 Jun 29;12(6):e0179456
pubmed: 28662078
JIMD Rep. 2012;2:107-11
pubmed: 23430862
Genomics Inform. 2012 Dec;10(4):214-9
pubmed: 23346032
Clin Genet. 2011 Aug;80(2):104-9
pubmed: 21651510
J Appl Genet. 2007;48(3):277-80
pubmed: 17666782
Front Cell Neurosci. 2014 Dec 22;8:430
pubmed: 25565964
Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):54-62
pubmed: 21308987
Chin Med J (Engl). 2016 Jan 5;129(1):98-100
pubmed: 26712441
Mayo Clin Proc. 2001 Aug;76(8):777-83
pubmed: 11499815
Ann Transl Med. 2018 Sep;6(17):338
pubmed: 30306077
Arch Pediatr Adolesc Med. 1997 Nov;151(11):1096-103
pubmed: 9369870
G3 (Bethesda). 2015 Jul 02;5(8):1543-50
pubmed: 26139844
Clin Genet. 2016 Mar;89(3):275-84
pubmed: 26283276
Eur J Hum Genet. 2005 May;13(5):628-34
pubmed: 15756301
Mol Genet Metab Rep. 2014;1:176-183
pubmed: 25419514
J Pediatr. 2019 Aug;211:54-62.e4
pubmed: 31160058
Am J Med Genet A. 2012 Aug;158A(8):2027-30
pubmed: 22786653
Genet Med. 2016 Nov;18(11):1090-1096
pubmed: 26938784