A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy
| Autor: | Reetta-Stiina Järvinen, Aino Jaakkola, Pauliina Repo, Tero Kivelä, Joni A. Turunen, Petri J. Järventausta |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Amyloid Corneal dystrophy General Medicine Biology medicine.disease Phenotype eye diseases 3. Good health 03 medical and health sciences Ophthalmology Exon 030104 developmental biology 0302 clinical medicine 030221 ophthalmology & optometry medicine Cancer research Lattice corneal dystrophy Missense mutation TGFBI Transforming growth factor |
| Zdroj: | European Journal of Ophthalmology. 32:NP61-NP66 |
| ISSN: | 1724-6016 1120-6721 |
| Popis: | Introduction: We describe the phenotype of a variant lattice corneal dystrophy (LCD) potentially caused by a novel variant c.1772C>T p.(Ser591Phe) in exon 13 of the transforming growth factor beta-induced (TGFBI) gene. Case report: The proband, a 71-year-old woman referred because of bilateral LCD, first seen at the age of 65 years, with recent progressive symptoms, underwent a clinical ophthalmological examination, anterior segment optical coherence tomography and confocal microscopy. Additionally, three siblings and three children were examined. The identified TGFBI variant was screened in six family members using Sanger sequencing. A corneal dystrophy gene screen was performed for the proband. Translucent subepithelial irregularities and central to midperipheral stubby branching corneal stromal lattice lines, asymmetric between the right and the left eye, were visible and resulted in mild deterioration of vision in one eye. Genetic testing revealed a novel variant c.1772C>T in TGFBI, leading to the amino acid change p.(Ser591Phe). One daughter carried the same variant but had only thick stromal nerve fibres at the age of 49 years. The other family members neither had corneal abnormalities nor carried the variant. No keratoplasty is yet planned for the proband. Conclusions: We classify the novel variant in TGFBI as possibly pathogenic, potentially causing the late-onset, asymmetric variant LCD. Our findings add to the growing number of TGFBI variants associated with a spectrum of phenotypes of variant LCD. |
| Databáze: | OpenAIRE |
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