Exome Sequencing Reveals
congenital hereditary endothelial dystrophy
intraocular pressure
primary congenital glaucoma
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
25 01 2023
25 01 2023
Historique:
received:
30
09
2022
revised:
02
01
2023
accepted:
21
01
2023
entrez:
25
2
2023
pubmed:
26
2
2023
medline:
3
3
2023
Statut:
epublish
Résumé
Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) may be misdiagnosed as primary congenital glaucoma (PCG) due to similar clinical phenotypes during early infancy. In this study, we identified a family with CHED2, which was previously misdiagnosed as having PCG, and followed up for 9 years. Linkage analysis was first completed in eight PCG-affected families, followed by whole-exome sequencing (WES) in family PKGM3. The following in silico tools were used to predict the pathogenic effects of identified variants: I-Mutant 2.0, SIFT, Polyphen-2, PROVEAN, mutation taster and PhD-SNP. After detecting an
Identifiants
pubmed: 36833236
pii: genes14020310
doi: 10.3390/genes14020310
pmc: PMC9956413
pii:
doi:
Substances chimiques
SLC4A11 protein, human
0
Antiporters
0
Anion Transport Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NICHD NIH HHS
ID : P50 HD103538
Pays : United States
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