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

Berry, V; Ionides, A; Pontikos, N; Moore, AT; Quinlan, RA; Michaelides, M; (2021) Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts. Eye 10.1038/s41433-021-01711-x. (In press). Green open access

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Abstract

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.

Type: Article
Title: Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/s41433-021-01711-x
Publisher version: https://doi.org/10.1038/s41433-021-01711-x
Language: English
Additional information: © 2021 Springer Nature Limited. This article is licensed under a Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/).
Keywords: Genetics, Genomics
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10132554
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