Noonan Syndrome in South Africa: Clinical and Molecular Profiles.
Noonan syndrome
RASopathies
Ras/MAPK signaling pathway
South Africa
multigene panel testing
targeted next-generation sequencing
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:
10
01
2019
accepted:
28
03
2019
entrez:
7
5
2019
pubmed:
7
5
2019
medline:
7
5
2019
Statut:
epublish
Résumé
Noonan Syndrome (NS) is a common autosomal dominant multisystem disorder, caused by mutations in more than 10 genes in the Ras/MAPK signaling pathway. Differential mutation frequencies are observed across populations. Clinical expressions of NS are highly variable and include short stature, distinctive craniofacial dysmorphism, cardiovascular abnormalities, and developmental delay. Little is known about phenotypic specificities and molecular characteristics of NS in Africa. The present study has investigated patients with NS in Cape Town (South Africa). Clinical features were carefully documented in a total of 26 patients. Targeted Next-Generation Sequencing (NGS) was performed on 16 unrelated probands, using a multigene panel comprising 14 genes:
Identifiants
pubmed: 31057598
doi: 10.3389/fgene.2019.00333
pmc: PMC6477999
doi:
Types de publication
Journal Article
Langues
eng
Pagination
333Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NHGRI NIH HHS
ID : U01 HG009716
Pays : United States
Références
Am J Med Genet. 2000 Sep 4;94(1):46-51
pubmed: 10982482
Am J Hum Genet. 2002 Jun;70(6):1555-63
pubmed: 11992261
J Clin Endocrinol Metab. 2004 Jul;89(7):3359-64
pubmed: 15240615
Arch Dis Child. 1992 Feb;67(2):178-83
pubmed: 1543375
Proteins. 2005 Jan 1;58(1):7-13
pubmed: 15521065
Annu Rev Genomics Hum Genet. 2005;6:45-68
pubmed: 16124853
Genet Couns. 1992;3(2):115-8
pubmed: 1642809
Science. 2006 Mar 3;311(5765):1287-90
pubmed: 16439621
Nat Genet. 2007 Jan;39(1):70-4
pubmed: 17143285
J Chem Phys. 2007 Jan 7;126(1):014101
pubmed: 17212484
Orphanet J Rare Dis. 2007 Jan 14;2:4
pubmed: 17222357
J Med Genet. 2007 Dec;44(12):763-71
pubmed: 17704260
BMC Bioinformatics. 2008 Jan 23;9:40
pubmed: 18215316
J Med Genet. 2008 Aug;45(8):500-6
pubmed: 18456719
Bioinformatics. 2009 Aug 15;25(16):2078-9
pubmed: 19505943
Nucleic Acids Res. 2010 Sep;38(16):e164
pubmed: 20601685
Am J Hum Genet. 2010 Aug 13;87(2):250-7
pubmed: 20619386
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
Pediatrics. 2010 Oct;126(4):746-59
pubmed: 20876176
Congenit Heart Dis. 2011 Jan-Feb;6(1):41-7
pubmed: 21269411
Genome Res. 2012 Mar;22(3):568-76
pubmed: 22300766
Lancet. 2013 Jan 26;381(9863):333-42
pubmed: 23312968
Eur J Hum Genet. 2013 Sep;21(9):936-42
pubmed: 23321623
Bioinformatics. 2013 Apr 1;29(7):845-54
pubmed: 23407358
Arch Dis Child. 2014 Jul;99(7):629-34
pubmed: 24534818
Proc Natl Acad Sci U S A. 2014 Aug 5;111(31):11473-8
pubmed: 25049390
Mol Syndromol. 2014 Dec;5(6):287-92
pubmed: 25565928
J Med Genet. 2015 Jun;52(6):413-21
pubmed: 25795793
Hum Mutat. 2015 Nov;36(11):1080-7
pubmed: 26173643
J Hum Genet. 2016 Jan;61(1):33-9
pubmed: 26446362
J Am Chem Soc. 1988 Mar 1;110(6):1657-66
pubmed: 27557051
OMICS. 2017 Feb;21(2):90-99
pubmed: 28075205
Am J Med Genet A. 2017 Sep;173(9):2323-2334
pubmed: 28748642
Genet Med. 2018 Oct;20(10):1175-1185
pubmed: 29469822
Genet Med. 2019 Jan;21(1):260
pubmed: 29959388
Am J Med Genet. 1985 Jul;21(3):493-506
pubmed: 3895929
J Pediatr. 1969 Jan;74(1):67-72
pubmed: 5782826
East Afr Med J. 1995 May;72(5):306-10
pubmed: 7555887
Cell. 1998 Feb 20;92(4):441-50
pubmed: 9491886