A pathogenic variant in the transforming growth factor beta I (
Corneal dystrophy
Iran
Next-generation sequencing
Pathogenic variant
TGFBI
Journal
Iranian journal of basic medical sciences
ISSN: 2008-3866
Titre abrégé: Iran J Basic Med Sci
Pays: Iran
ID NLM: 101517966
Informations de publication
Date de publication:
Aug 2020
Aug 2020
Historique:
entrez:
21
9
2020
pubmed:
22
9
2020
medline:
22
9
2020
Statut:
ppublish
Résumé
Granular and lattice corneal dystrophies (GCDs & LCDs) are autosomal dominant inherited disorders of the cornea. Due to genetic heterogeneity and large genes, unraveling the mutation is challenging. Patients underwent comprehensive clinical examination, and targeted next-generation sequencing (NGS) was used for mutation detection. Co-segregation and Patients suffered from GCD. NGS disclosed a known pathogenic variant, c.371G>A (p.R124H), in exon 4 of The results, in accordance with previous studies, indicate that the c.371G>A in TGFBI is associated with GCD. Some phenotypic variations are related to factors such as modifier genes, reduced penetrance and environmental effects.
Identifiants
pubmed: 32952948
doi: 10.22038/ijbms.2020.36763.8757
pmc: PMC7478261
doi:
Types de publication
Journal Article
Langues
eng
Pagination
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