| Autor: |
Michel Michaelides, Michalis Georgiou, Vanita Berry, Alexander Ionides, Roy A Quinlan |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| Zdroj: |
BMJ Open Ophthalmology, Vol 8, Iss 1 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2397-3269 |
| DOI: |
10.1136/bmjophth-2023-001252 |
| Popis: |
Background A five generation family has been analysed by whole exome sequencing (WES) for genetic associations with the multimorbidities of congenital cataract (CC), retinitis pigmentosa (RP) and Crohn’s disease (CD).Methods WES was performed for unaffected and affected individuals within the family pedigree followed by bioinformatic analyses of these data to identify disease-causing variants with damaging pathogenicity scores.Results A novel pathogenic missense variant in WFS1: c.1897G>C; p.V633L, a novel pathogenic nonsense variant in RP1: c.6344T>G; p.L2115* and a predicted pathogenic missense variant in NOD2: c.2104C>T; p.R702W are reported. The three variants cosegregated with the phenotypic combinations of autosomal dominant CC, RP and CD within individual family members.Conclusions Here, we report multimorbidity in a family pedigree listed on a CC register, which broadens the spectrum of potential cataract associated genes to include both RP1 and NOD2. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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