Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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Inheritance |
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Ocular features |
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | Ocular |
Therapies under research |
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Further information |
Additional information
Pathogenic missense variants in the HSF4 protein’s DNA-binding domain are inherited in an AD manner while bialleic variants (AR) in other functional domains are required to cause a clinical phenotype. Based on this observation, Anand et al suggests that the DNA-binding domain is integral to HSF4 function.[4]
References
- Bu L, Jin Y, Shi Y, et al. Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. Nat Genet. 2002;31(3):276‐278
- Mellersh CS, Graves KT, McLaughlin B, et al. Mutation in HSF4 associated with early but not late-onset hereditary cataract in the Boston Terrier. J Hered. 2007;98(5):531‐533
- Berry V, Pontikos N, Moore A, et al. A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family. Eye (Lond). 2018;32(4):806-812
- Anand D, Agrawal SA, Slavotinek A, Lachke SA. Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects. Hum Mutat. 2018;39(4):471-494
- Talamas E, Jackson L, Koeberl M, et al. Early transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 mice. Genomics. 2006;88(1):44‐51
- Fujimoto M, Izu H, Seki K, et al. HSF4 is required for normal cell growth and differentiation during mouse lens development. EMBO J. 2004;23(21):4297-4306
- Gao M, Huang Y, Wang L, et al. HSF4 regulates lens fiber cell differentiation by activating p53 and its downstream regulators. Cell Death Dis. 2017;8(10):e3082