A New
NGS (next generation sequencing)
amelogenesis imperfecta
human
rare diseases
skeletal dysplasia
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2019
2019
Historique:
received:
07
02
2019
accepted:
07
05
2019
entrez:
14
6
2019
pubmed:
14
6
2019
medline:
14
6
2019
Statut:
epublish
Résumé
Amelogenesis imperfecta (AI) is a heterogeneous group of rare inherited diseases presenting with enamel defects. More than 30 genes have been reported to be involved in syndromic or non-syndromic AI and new genes are continuously discovered (Smith et al., 2017). Whole-exome sequencing was performed in a consanguineous family. The affected daughter presented with intra-uterine and postnatal growth retardation, skeletal dysplasia, macrocephaly, blue sclerae, and hypoplastic AI. We identified a homozygous missense mutation in exon 11 of
Identifiants
pubmed: 31191616
doi: 10.3389/fgene.2019.00504
pmc: PMC6546871
doi:
Types de publication
Case Reports
Langues
eng
Pagination
504Références
Am J Hum Genet. 2009 Nov;85(5):699-705
pubmed: 19853237
Pflugers Arch. 2010 Jul;460(2):417-35
pubmed: 20111871
Nat Methods. 2010 Apr;7(4):248-9
pubmed: 20354512
Cells Tissues Organs. 2011;194(1):49-59
pubmed: 21252474
J Clin Res Pediatr Endocrinol. 2011;3(4):163-78
pubmed: 22155458
Biochem J. 2012 Jun 15;444(3):497-502
pubmed: 22530691
Mol Syndromol. 2012 Oct;3(4):158-68
pubmed: 23239958
J Dent Res. 2014 Feb;93(2):117-25
pubmed: 24076519
J Dent Res. 2014 Jul;93(7 Suppl):94S-100S
pubmed: 24621671
Hum Mol Genet. 2015 Jun 1;24(11):3038-49
pubmed: 25669657
PeerJ. 2015 Mar 03;3:e796
pubmed: 25780760
Bone Res. 2014 Oct 28;2:14034
pubmed: 26273529
Nat Protoc. 2016 Jan;11(1):1-9
pubmed: 26633127
Eur J Cell Biol. 2016 Mar-May;95(3-5):164-74
pubmed: 26832117
Eur J Med Genet. 2016 Nov;59(11):577-583
pubmed: 27667191
Int J Nanomedicine. 2016 Sep 19;11:4743-4763
pubmed: 27695330
Front Physiol. 2017 Jun 26;8:435
pubmed: 28694781
Hum Mol Genet. 2018 Sep 1;27(17):3029-3045
pubmed: 29878199
Nat Commun. 2018 Aug 6;9(1):3087
pubmed: 30082715