Mutation update of transcription factor genesFOXE3,HSF4,MAF, andPITX3causing cataracts and other developmental ocular defects

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Berry, 2011, A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract, Molecular Vision, 17, 1249

Berry, 2004, Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4), Journal of Medical Genetics, 41, e109, 10.1136/jmg.2004.020289

Berry, 2017, A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family, Eye

Bidinost, 2006, Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities, Investigative Ophthalmology and Visual Science, 47, 1274, 10.1167/iovs.05-1095

Blixt, 2007, Foxe3 is required for morphogenesis and differentiation of the anterior segment of the eye and is sensitive to Pax6 gene dosage, Developmental Biology, 302, 218, 10.1016/j.ydbio.2006.09.021

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Brémond-Gignac, 2010, Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia, Molecular Vision, 16, 1705

Brownell, 2000, Forkhead Foxe3 maps to the dysgenetic lens locus and is critical in lens development and differentiation, Genesis, 27, 81, 10.1002/1526-968X(200006)27:2<81::AID-GENE50>3.0.CO;2-N

Bu, 2002, Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract, Nature Genetics, 31, 276, 10.1038/ng921

Burdon, 2006, The PITX3 gene in posterior polar congenital cataract in Australia, Molecular Vision, 12, 367

Chassaing, 2014, Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia, Clinical Genetics, 86, 326, 10.1111/cge.12275

Chen, 2017, Molecular genetic analysis of Pakistani families with autosomal recessive congenital cataracts by homozygosity screening, Investigative Ophthalmology and Visual Science, 58, 2207, 10.1167/iovs.17-21469

Cong, 2013, Multiplex genome engineering using CRISPR/Cas systems, Science, 339, 819, 10.1126/science.1231143

Coulon, 2007, A muscle-specific promoter directs Pitx3 gene expression in skeletal muscle cells, Journal of Biological Chemistry, 282, 33192, 10.1074/jbc.M706119200

Cui, 2004, Mafs, Prox1, and Pax6 can regulate chicken betaB1-crystallin gene expression, Journal of Biological Chemistry, 279, 11088, 10.1074/jbc.M312414200

Cui, 2013, HSF4 regulates DLAD expression and promotes lens de-nucleation, Biochimica et Biophysica Acta, 1832, 1167, 10.1016/j.bbadis.2013.03.007

Doucette, 2011, A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly, European Journal of Human Genetics, 19, 293, 10.1038/ejhg.2010.210

Dudakova, 2017, Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts, Molecular Biology Reports

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Finzi, 2005, Posterior polar cataract: Genetic analysis of a large family, Ophthalmic Genetics, 26, 125, 10.1080/13816810500229124

Forshew, 2005, Locus heterogeneity in autosomal recessive congenital cataracts: Linkage to 9q and germline HSF4 mutations, Human Genetics, 117, 452, 10.1007/s00439-005-1309-9

Fujimoto, 2004, HSF4 is required for normal cell growth and differentiation during mouse lens development, EMBO Journal, 23, 4297, 10.1038/sj.emboj.7600435

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Gangalum, 2014, Expression of the HSF4 DNA binding domain-EGFP hybrid gene recreates early childhood lamellar cataract in transgenic mice, Investigative Ophthalmology and Visual Science, 55, 7227, 10.1167/iovs.14-14594

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Hansen, 2007, Novel MAF mutation in a family with congenital cataract-microcornea syndrome, Molecular Vision, 13, 2019

Hansen, 2009, Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract, Investigative Ophthalmology and Visual Science, 50, 3291, 10.1167/iovs.08-3149

He, 2010, Chromatin remodeling enzyme Brg1 is required for mouse lens fiber cell terminal differentiation and its denucleation, Epigenetics and Chromatin, 3, 21, 10.1186/1756-8935-3-21

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Ho, 2009, Homeodomain protein Pitx3 maintains the mitotic activity of lens epithelial cells, Mechanisms of Development, 126, 18, 10.1016/j.mod.2008.10.007

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Hwang, 2003, Selective loss of dopaminergic neurons in the substantia nigra of Pitx3-deficient aphakia mice, Brain Research. Molecular Brain Research, 114, 123, 10.1016/S0169-328X(03)00162-1

Iseri, 2009, Seeing clearly: The dominant and recessive nature of FOXE3 in eye developmental anomalies, Human Mutation, 30, 1378, 10.1002/humu.21079

Islam, 2015, Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease, Human Mutation, 36, 296, 10.1002/humu.22741

Jablonski, 2004, The ldis1 lens mutation in RIIIS/J mice maps to chromosome 8 near cadherin 1, Molecular Vision, 10, 577

Jamieson, 2002, Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma, Human Molecular Genetics, 11, 33, 10.1093/hmg/11.1.33

Javadiyan, 2017, Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome), BMC Medical Genetics, 18, 52, 10.1186/s12881-017-0414-7

Jimenez, 2011, Targeted “next-generation” sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations, BMC Medical Genetics, 12, 172, 10.1186/1471-2350-12-172

Jing, 2014, HSF4 mutation p.Arg116His found in age-related cataracts and in normal populations produces childhood lamellar cataract in transgenic mice, Human Mutation, 35, 1068, 10.1002/humu.22610

Kakrana, 2018, iSyTE 2.0: A database for expression-based gene discovery in the eye, Nucleic Acids Research, 46, D875, 10.1093/nar/gkx837

Kataoka, 2007, Multiple mechanisms and functions of maf transcription factors in the regulation of tissue-specific genes, Journal of Biochemistry, 141, 775, 10.1093/jb/mvm105

Kawauchi, 1999, Regulation of lens fiber cell differentiation by transcription factor c-Maf, Journal of Biological Chemistry, 274, 19254, 10.1074/jbc.274.27.19254

Ke, 2006, Novel HSF4 mutation causes congenital total white cataract in a Chinese family, American Journal of Ophthalmology, 142, 298, 10.1016/j.ajo.2006.03.056

Kenyon, 1999, A novel fork head gene mediates early steps during Xenopus lens formation, Development, 126, 5107, 10.1242/dev.126.22.5107

Keppler-Noreuil, 2007, Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: Two additional cases, American Journal of Medical Genetics A, 143A, 2581, 10.1002/ajmg.a.31990

Khan, 2016, FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1, Nature Communications, 7, 10953, 10.1038/ncomms10953

Kim, 1999, Requirement for the c-Maf transcription factor in crystallin gene regulation and lens development, Proceedings of the National Academy of Sciences of the United States of America, 96, 3781, 10.1073/pnas.96.7.3781

Kleinjan, 2005, Long-range control of gene expression: Emerging mechanisms and disruption in disease, American Journal of Human Genetics, 76, 8, 10.1086/426833

Kleinjan, 2001, Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6, Human Molecular Genetics, 10, 2049, 10.1093/hmg/10.19.2049

Kuang, 2016, FOXE3 mutations predispose to thoracic aortic aneurysms and dissections, Journal of Clinical Investigation, 126, 948, 10.1172/JCI83778

Lachke, 2012, iSyTE: Integrated Systems Tool for Eye gene discovery, Investigative Ophthalmology and Visual Science, 53, 1617, 10.1167/iovs.11-8839

Landgren, 2008, Persistent FoxE3 expression blocks cytoskeletal remodeling and organelle degradation during lens fiber differentiation, Investigative Ophthalmology and Visual Science, 49, 4269, 10.1167/iovs.08-2243

Li, 2016, Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population, Molecular Vision, 22, 589

Liang, 2011, Functional analysis of the Hsf4(lop11) allele responsible for cataracts in lop11 mice, Molecular Vision, 17, 3062

Liu, 2017, Whole exome sequencing identifies a novel mutation in the PITX3 gene, causing autosomal dominant congenital cataracts in a Chinese family, Annals of Clinical and Laboratory Science, 47, 92

Liu, 2015, A novel HSF4 mutation in a Chinese family with autosomal dominant congenital cataract, Journal of Huazhong Univercity of Science and Technology. Medical Sciences, 35, 316, 10.1007/s11596-015-1430-5

Lv, 2014, A novel HSF4 gene mutation causes autosomal-dominant cataracts in a Chinese family, G3 (Bethesda), 4, 823, 10.1534/g3.113.009860

Lyon, 2003, A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding, Human Molecular Genetics, 12, 585, 10.1093/hmg/ddg063

Ma, 2016, Sporadic and familial congenital cataracts: Mutational spectrum and new diagnoses using next-generation sequencing, Human Mutation, 37, 371, 10.1002/humu.22948

MacLean, 2003, Absence of transcription factor c-maf causes abnormal terminal differentiation of hypertrophic chondrocytes during endochondral bone development, Developmental Biology, 262, 51, 10.1016/S0012-1606(03)00324-5

Matteson, 2008, The orphan G protein-coupled receptor, Gpr161, encodes the vacuolated lens locus and controls neurulation and lens development, Proceedings of the National Academy of Sciences of the United States of America, 105, 2088, 10.1073/pnas.0705657105

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Niceta, 2015, Mutations impairing GSK3-mediated maf phosphorylation cause cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies, American Journal of Human Genetics, 96, 816, 10.1016/j.ajhg.2015.03.001

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Perveen, 2007, A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation, Human Molecular Genetics, 16, 1030, 10.1093/hmg/ddm048

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Reis, 2010, FOXE3 plays a significant role in autosomal recessive microphthalmia, American Journal of Medical Genetics A, 152A, 582, 10.1002/ajmg.a.33257

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