The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Developmental delay
Exome sequencing
Genotype first
Inherited metabolic disorders
Intellectual disability
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Dec 2021
Dec 2021
Historique:
received:
29
07
2021
revised:
07
10
2021
accepted:
09
10
2021
entrez:
29
10
2021
pubmed:
30
10
2021
medline:
30
10
2021
Statut:
epublish
Résumé
Considering that some Inherited Metabolic Disorders (IMDs) can be diagnosed in patients with no distinctive clinical features of IMDs, we aimed to evaluate the power of exome sequencing (ES) to diagnose IMDs within a cohort of 547 patients with unspecific developmental disorders (DD). IMDs were diagnosed in 12% of individuals with causative diagnosis (177/547). There are clear benefits of using ES in DD to diagnose IMD, particularly in cases where biochemical studies are unavailable. Exome sequencing and diagnostic rate of Inherited Metabolic Disorders in individuals with developmental disorders.
Identifiants
pubmed: 34712575
doi: 10.1016/j.ymgmr.2021.100812
pii: S2214-4269(21)00107-5
pmc: PMC8528787
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
100812Informations de copyright
© 2021 Published by Elsevier Inc.
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest.
Références
Ginekol Pol. 2021;92(1):51-56
pubmed: 33448012
Nat Rev Genet. 2018 May;19(5):253-268
pubmed: 29398702
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Neuroscience. 2019 Oct 15;418:291-310
pubmed: 31487502
Nature. 2015 Mar 12;519(7542):223-8
pubmed: 25533962
NPJ Genom Med. 2018 Jul 9;3:16
pubmed: 30002876
Expert Rev Mol Diagn. 2017 Apr;17(4):307-309
pubmed: 28277145
Am J Med Genet A. 2018 Nov;176(11):2509-2512
pubmed: 30244529
Arch Dis Child. 2017 Nov;102(11):1019-1029
pubmed: 28468868
Am J Med Genet A. 2019 Mar;179(3):480-485
pubmed: 30690882
Dialogues Clin Neurosci. 2018 Dec;20(4):301-325
pubmed: 30936770
JAMA. 2014 Nov 12;312(18):1870-9
pubmed: 25326635
Paediatr Child Health. 2018 Sep;23(6):403-419
pubmed: 30919832
Genet Med. 2018 Jun;20(6):645-654
pubmed: 29095811
J Inherit Metab Dis. 2018 May;41(3):435-445
pubmed: 29721916
Neurology. 2003 Feb 11;60(3):367-80
pubmed: 12578916
N Engl J Med. 2016 Jun 9;374(23):2246-55
pubmed: 27276562
Genet Med. 2016 Sep;18(9):949-56
pubmed: 26845106
Clin Genet. 2016 Jun;89(6):700-7
pubmed: 26757139
Adv Clin Chem. 2016;73:195-250
pubmed: 26975974
Eur J Hum Genet. 2018 Mar;26(3):340-349
pubmed: 29330547
Nat Rev Genet. 2016 Jan;17(1):9-18
pubmed: 26503795
Eur J Hum Genet. 2019 Oct;27(10):1519-1531
pubmed: 31231135
Neurology. 2011 Oct 25;77(17):1629-35
pubmed: 21956720
Hum Mutat. 2019 Dec;40(12):2430-2443
pubmed: 31379041
Am J Hum Genet. 2014 Jul 3;95(1):113-20
pubmed: 24995870
Paediatr Child Health. 2018 May;23(3):191-197
pubmed: 29769805
Genet Med. 2014 Dec;16(12):922-31
pubmed: 24901346
Am J Med Genet A. 2019 Sep;179(9):1756-1763
pubmed: 31241255
Forensic Sci Int Genet. 2019 Nov;43:102111
pubmed: 31563034