A Novel Homozygous Frameshift Variant in
cataract
osteoporosis
spondyloocular syndrome (SOS)
whole-exome-sequencing (WES)
xylosyltransferase II (XYLT2)
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:
08
11
2018
accepted:
12
02
2019
entrez:
21
3
2019
pubmed:
21
3
2019
medline:
21
3
2019
Statut:
epublish
Résumé
We report on three new patients with spondyloocular syndrome (SOS) in a consanguineous Pakistani family. All three patients present progressive generalized osteoporosis, short stature, recurrent fractures, hearing loss and visual impairments. WES revealed a novel homozygous frameshift variant in exon 11 of
Identifiants
pubmed: 30891060
doi: 10.3389/fgene.2019.00144
pmc: PMC6411848
doi:
Types de publication
Journal Article
Langues
eng
Pagination
144Références
Clin Genet. 2001 Feb;59(2):99-105
pubmed: 11260210
Am J Med Genet A. 2006 Mar 15;140(6):652-6
pubmed: 16470687
Nat Methods. 2010 Apr;7(4):248-9
pubmed: 20354512
Nucleic Acids Res. 2012 Jul;40(Web Server issue):W452-7
pubmed: 22689647
J Pak Med Assoc. 2012 Apr;62(4):367-77
pubmed: 22755283
J Histochem Cytochem. 2012 Dec;60(12):885-97
pubmed: 23019015
Nature. 2012 Nov 1;491(7422):56-65
pubmed: 23128226
Am J Hum Genet. 2015 Jun 4;96(6):971-8
pubmed: 26027496
Biomed Res Int. 2015;2015:861752
pubmed: 26582078
J Bone Miner Res. 2016 Aug;31(8):1577-85
pubmed: 26987875
Horm Metab Res. 2016 Nov;48(11):745-754
pubmed: 27871115
Am J Med Genet A. 2017 Dec;173(12):3195-3200
pubmed: 28884924
Clin Genet. 2018 Apr;93(4):913-918
pubmed: 29136277