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Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts

Berry, Vanita; Ionides, Alex; Pontikos, Nikolas; Moore, Anthony T.; Quinlan, Roy A.; Michaelides, Michel

Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts Thumbnail


Vanita Berry

Alex Ionides

Nikolas Pontikos

Anthony T. Moore

Michel Michaelides


Background: 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. Methods: 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. Results: Family A had a missense variant (c.184 G>A; 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 T>C; p.L114P) was associated with congenital cataract in a single isolated case. Conclusions: We have therefore identified novel variants in PAX6 and PITX3 that cause autosomal dominant congenital cataract.


Berry, V., Ionides, A., Pontikos, N., Moore, A. T., Quinlan, R. A., & Michaelides, M. (2022). Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts. Eye, 36(8), 1694-1701.

Journal Article Type Article
Acceptance Date Jul 16, 2021
Online Publication Date Aug 3, 2021
Publication Date 2022-08
Deposit Date Oct 25, 2021
Publicly Available Date Oct 25, 2021
Journal Eye
Print ISSN 0950-222X
Electronic ISSN 1476-5454
Publisher Springer Nature [academic journals on]
Peer Reviewed Peer Reviewed
Volume 36
Issue 8
Pages 1694-1701


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