| Autor: |
Vanita, Berry, Alex, Ionides, Nikolas, Pontikos, Anthony T, Moore, Roy A, Quinlan, Michel, Michaelides |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
Eye (London, England). 36(8) |
| ISSN: |
1476-5454 |
| Popis: |
Lens development is orchestrated by transcription factors. Disease-causing variants in transcription factors and their developmental target genes are associated with congenital cataracts and other eye anomalies.Using whole exome sequencing, we identified disease-causing variants in two large British families and one isolated case with autosomal dominant congenital cataract. Bioinformatics analysis confirmed these disease-causing mutations as rare or novel variants, with a moderate to damaging pathogenicity score, with testing for segregation within the families using direct Sanger sequencing.Family A had a missense variant (c.184 GA; p.V62M) in PAX6 and affected individuals presented with nuclear cataract. Family B had a frameshift variant (c.470-477dup; p.A160R*) in PITX3 that was also associated with nuclear cataract. A recurrent missense variant in HSF4 (c.341 TC; p.L114P) was associated with congenital cataract in a single isolated case.We have therefore identified novel variants in PAX6 and PITX3 that cause autosomal dominant congenital cataract. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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