Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a
CTG18.1
Kearns-Sayre syndrome
TCF4
corneal dystrophy
corneal endothelium
endothelial failure
exome sequencing
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
29 11 2021
29 11 2021
Historique:
received:
17
10
2021
revised:
23
11
2021
accepted:
28
11
2021
entrez:
24
12
2021
pubmed:
25
12
2021
medline:
17
2
2022
Statut:
epublish
Résumé
The aim of this study was to describe the ocular phenotype in a case with Kearns-Sayre syndrome (KSS) spectrum and to determine if corneal endothelial cell dysfunction could be attributed to other known distinct genetic causes. Herein, genomic DNA was extracted from blood and exome sequencing was performed. Non-coding gene regions implicated in corneal endothelial dystrophies were screened by Sanger sequencing. In addition, a repeat expansion situated within an intron of
Identifiants
pubmed: 34946867
pii: genes12121918
doi: 10.3390/genes12121918
pmc: PMC8702069
pii:
doi:
Substances chimiques
DNA, Mitochondrial
0
TCF4 protein, human
0
Transcription Factor 4
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Medical Research Council
ID : MR/S031820/1
Pays : United Kingdom
Références
Cornea. 2016 Sep;35(9):1250-4
pubmed: 27442316
J Neurol. 2015 May;262(5):1301-9
pubmed: 25808502
Am J Hum Genet. 2018 Apr 5;102(4):528-539
pubmed: 29526280
Cornea. 2014 Nov;33(11):1232-4
pubmed: 25211357
Prog Retin Eye Res. 2021 Mar;81:100883
pubmed: 32735996
Eur J Hum Genet. 2003 May;11(5):375-9
pubmed: 12734542
Int J Retina Vitreous. 2017 Jul 10;3:24
pubmed: 28702261
Am J Hum Genet. 2018 Mar 1;102(3):447-459
pubmed: 29499165
Nat Genet. 2019 Nov;51(11):1560-1565
pubmed: 31676867
Exp Eye Res. 2019 May;182:160-166
pubmed: 30851240
PLoS One. 2012;7(11):e49083
pubmed: 23185296
Ann Hum Genet. 2015 Jan;79(1):1-9
pubmed: 25441224
Brain Sci. 2020 Oct 22;10(11):
pubmed: 33105723
Neurology. 1983 Sep;33(9):1179-95
pubmed: 6193458
Eye (Lond). 2003 Nov;17(8):912-8
pubmed: 14631396
Nature. 2020 May;581(7809):434-443
pubmed: 32461654
Am J Hum Genet. 2016 Jan 7;98(1):75-89
pubmed: 26749309
J Cataract Refract Surg. 2013 Nov;39(11):1707-12
pubmed: 24054966
Cornea. 2016 Dec;35(12):e39
pubmed: 27741019
Cornea. 1994 May;13(3):269-73
pubmed: 8033580