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A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family

Berry, V; Pontikos, N; Moore, A; Ionides, ACW; Plagnol, V; Cheetham, ME; Michaelides, M; (2018) A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family. Eye , 32 pp. 806-812. 10.1038/eye.2017.268. Green open access

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Abstract

Purpose: Inherited cataract, opacification of the lens, is the most common worldwide cause of blindness in children. We aimed to identify the genetic cause of isolated autosomal-dominant lamellar cataract in a five-generation British family. / Methods: Whole exome sequencing (WES) was performed on two affected individuals of the family and further validated by direct sequencing in family members. / Results: A novel missense mutation NM_001040667.2:c.190A>G;p.K64E was identified in the DNA-binding-domain of heat-shock transcription factor 4 (HSF4) and found to co-segregate with disease. / Conclusion: We have identified a novel mutation in HSF4 in a large British pedigree causing dominant congenital lamellar cataract. This is the second mutation in this gene found in the British population. This mutation is likely to be dominant negative and affect the DNA-binding affinity of HSF4.

Type: Article
Title: A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/eye.2017.268
Publisher version: http://dx.doi.org/10.1038/eye.2017.268
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
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
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Genetics, Evolution and Environment
URI: https://discovery.ucl.ac.uk/id/eprint/10042876
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