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320422"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Welcome Trust","doi-asserted-by":"publisher","award":["099173\/Z\/12\/Z"],"award-info":[{"award-number":["099173\/Z\/12\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>We aim to report the ocular phenotype and molecular genetic findings in two Czech families with Sorsby fundus dystrophy and to review all the reported TIMP3 pathogenic variants. Two probands with Sorsby fundus dystrophy and three first-degree relatives underwent ocular examination and retinal imaging, including optical coherence tomography angiography. The DNA of the first proband was screened using a targeted ocular gene panel, while, in the second proband, direct sequencing of the TIMP3 coding region was performed. Sanger sequencing was also used for segregation analysis within the families. All the previously reported TIMP3 variants were reviewed using the American College of Medical Genetics and the Association for Molecular Pathology interpretation framework. A novel heterozygous variant, c.455A&gt;G p.(Tyr152Cys), in TIMP3 was identified in both families and potentially de novo in one. Optical coherence tomography angiography documented in one patient the development of a choroidal neovascular membrane at 54 years. Including this study, 23 heterozygous variants in TIMP3 have been reported as disease-causing. Application of gene-specific criteria denoted eleven variants as pathogenic, eleven as likely pathogenic, and one as a variant of unknown significance. Our study expands the spectrum of TIMP3 pathogenic variants and highlights the importance of optical coherence tomography angiography for early detection of choroidal neovascular membranes.<\/jats:p>","DOI":"10.3390\/ijms25073744","type":"journal-article","created":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T13:45:01Z","timestamp":1711547101000},"page":"3744","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation"],"prefix":"10.3390","volume":"25","author":[{"given":"Andrea","family":"Vergaro","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic"},{"name":"Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Pankievic","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jana","family":"Jedlickova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4718-8955","authenticated-orcid":false,"given":"Lubica","family":"Dudakova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9590-9633","authenticated-orcid":false,"given":"Marie","family":"Vajter","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic"},{"name":"Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Michaelides","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, University College London and Moorfields Eye Hospital, London EC1V 9EL, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Meliska","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pavel","family":"Nemec","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, First Faculty of Medicine and Military University Hospital Prague, 162 00 Prague, Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-9459-9695","authenticated-orcid":false,"given":"Daniela","family":"Babincova","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology, AGEL, 741 01 Nov\u00fd J\u00ed\u010d\u00edn, Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2824-2266","authenticated-orcid":false,"given":"Bohdan","family":"Kousal","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7834-8486","authenticated-orcid":false,"given":"Petra","family":"Liskova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic"},{"name":"Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech 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Eye Res."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1002\/jnr.24317","article-title":"Sorsby fundus dystrophy: Insights from the past and looking to the future","volume":"97","author":"Chao","year":"2019","journal-title":"J. Neurosci. Res."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.matbio.2015.03.005","article-title":"The role of TIMPs in regulation of extracellular matrix proteolysis","volume":"44\u201346","author":"Arpino","year":"2015","journal-title":"Matrix Biol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1038\/nm846","article-title":"A novel function for tissue inhibitor of metalloproteinases-3 (TIMP3): Inhibition of angiogenesis by blockage of VEGF binding to VEGF receptor-2","volume":"9","author":"Qi","year":"2003","journal-title":"Nat. Med."},{"key":"ref_5","first-page":"2367","article-title":"TIMP-3 in Bruch\u2019s membrane: Changes during aging and in age-related macular degeneration","volume":"40","author":"Kamei","year":"1999","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"2664","DOI":"10.1167\/iovs.14-15733","article-title":"Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes","volume":"56","author":"Gliem","year":"2015","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"e30595","DOI":"10.1097\/MD.0000000000030595","article-title":"Sorsby fundus dystrophy (SFD): A narrative review","volume":"101","author":"Tsokolas","year":"2022","journal-title":"Medicine"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/s40942-015-0005-8","article-title":"A review of optical coherence tomography angiography (OCTA)","volume":"1","author":"Romano","year":"2015","journal-title":"Int. J. Retin. Vitr."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"bcr2016216453","DOI":"10.1136\/bcr-2016-216453","article-title":"OCT angiography in the management of choroidal neovascular membrane secondary to Sorsby fundus dystrophy","volume":"2016","author":"Mohla","year":"2016","journal-title":"BMJ Case Rep."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1810","DOI":"10.1038\/s41433-021-01735-3","article-title":"Treatment of Sorsby fundus dystrophy with anti-tumor necrosis factor-alpha medication","volume":"36","author":"Spaide","year":"2022","journal-title":"Eye"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1177\/1120672118811568","article-title":"Evaluation of Pro-re-Nata (PRN) and Treat and Extend Bevacizumab treatment protocols in Sorsby Fundus Dystrophy","volume":"30","author":"Tsokolas","year":"2020","journal-title":"Eur. J. Ophthalmol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1097\/ICB.0000000000000946","article-title":"Long-Term Visual Acuity Preservation in Sorsby Fundus Dystrophy with Corticosteroid Treatment","volume":"16","author":"Spaide","year":"2022","journal-title":"Retin. Cases Brief Rep."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1159\/000520931","article-title":"Choriocapillaris Flow Signal Impairment in Sorsby Fundus Dystrophy","volume":"245","author":"Hess","year":"2022","journal-title":"Ophthalmologica"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"32544","DOI":"10.1038\/srep32544","article-title":"A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene","volume":"6","author":"Meunier","year":"2016","journal-title":"Sci. Rep."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/aos.12272","article-title":"Implementation studies of ranibizumab for neovascular age-related macular degeneration","volume":"91","author":"Bloch","year":"2013","journal-title":"Acta Ophthalmol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1001\/jamaophthalmol.2022.1822","article-title":"Early-Onset TIMP3-Related Retinopathy Associated with Impaired Signal Peptide","volume":"140","author":"Guan","year":"2022","journal-title":"JAMA Ophthalmol."},{"key":"ref_17","first-page":"3290","article-title":"Novel mutations and change of nomenclature for pathogenic variants in the TIMP3 gene causing Sorsby fundus dystrophy","volume":"55","author":"Bakall","year":"2014","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1002\/humu.23713","article-title":"The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond","volume":"40","author":"Naessens","year":"2019","journal-title":"Hum. Mutat."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1097\/IAE.0b013e318263d3b4","article-title":"A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy","volume":"33","author":"Schoenberger","year":"2013","journal-title":"Retina"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1038\/eye.2015.204","article-title":"A rare penetrant TIMP3 mutation confers relatively late onset choroidal neovascularisation which can mimic age-related macular degeneration","volume":"30","author":"Warwick","year":"2016","journal-title":"Eye"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1080\/13816810.2020.1795889","article-title":"A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype","volume":"41","author":"DeBenedictis","year":"2020","journal-title":"Ophthalmic Genet."},{"key":"ref_22","first-page":"179","article-title":"A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby\u2019s fundus dystrophy with unusual clinical features","volume":"103","author":"Tabata","year":"1998","journal-title":"Hum. Genet."},{"key":"ref_23","first-page":"1218","article-title":"Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy","volume":"15","author":"Saihan","year":"2009","journal-title":"Mol. Vis."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"27027","DOI":"10.1016\/S0021-9258(19)61475-4","article-title":"A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby\u2019s fundus dystrophy","volume":"275","author":"Langton","year":"2000","journal-title":"J. Biol. Chem."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1136\/bjo.85.12.1429","article-title":"Clinical features of a novel TIMP-3 mutation causing Sorsby\u2019s fundus dystrophy: Implications for disease mechanism","volume":"85","author":"Clarke","year":"2001","journal-title":"Br. J. Ophthalmol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"42078","DOI":"10.1038\/srep42078","article-title":"Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies","volume":"7","author":"Riera","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"2415","DOI":"10.1093\/hmg\/4.12.2415","article-title":"A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby\u2019s fundus dystrophy with unusual clinical features","volume":"4","author":"Felbor","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1016\/j.ajo.2006.06.003","article-title":"A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy","volume":"142","author":"Lin","year":"2006","journal-title":"Am. J. Ophthalmol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1097\/ICB.0b013e318267101e","article-title":"Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation","volume":"7","author":"Fung","year":"2013","journal-title":"Retin. Cases Brief Rep."},{"key":"ref_30","first-page":"57","article-title":"Autosomal recessive Sorsby fundus dystrophy revisited: Molecular evidence for dominant inheritance","volume":"60","author":"Felbor","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1001\/archopht.120.3.376","article-title":"Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy","volume":"120","author":"Jacobson","year":"2002","journal-title":"Arch. Ophthalmol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1038\/ng1294-352","article-title":"Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby\u2019s fundus dystrophy","volume":"8","author":"Weber","year":"1994","journal-title":"Nat. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1001\/archopht.123.4.542","article-title":"A novel TIMP3 mutation associated with Sorsby fundus dystrophy","volume":"123","author":"Barbazetto","year":"2005","journal-title":"Arch. Ophthalmol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1038\/ng0694-158","article-title":"Sorsby\u2019s fundus dystrophy is genetically linked to chromosome 22q13-qter","volume":"7","author":"Weber","year":"1994","journal-title":"Nat. Genet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1645","DOI":"10.1097\/IAE.0000000000003515","article-title":"Swept-Source Optical Coherence Tomography Detection of Bruch Membrane and Choriocapillaris Abnormalities in Sorsby Macular Dystrophy","volume":"42","author":"Iyer","year":"2022","journal-title":"Retina"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/S0161-6420(86)33697-2","article-title":"Fluorescein angiography complication survey","volume":"93","author":"Yannuzzi","year":"1986","journal-title":"Ophthalmology"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"3529","DOI":"10.1007\/s00417-021-05239-4","article-title":"Sensitivity and specificity of optical coherence tomography angiography in the diagnosis of active choroidal neovascularization: A systematic review and meta-analysis","volume":"259","author":"Wang","year":"2021","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/S0925-4439(03)00036-X","article-title":"Expression of mutant and wild-type TIMP3 in primary gingival fibroblasts from Sorsby\u2019s fundus dystrophy patients","volume":"1638","author":"Arris","year":"2003","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"16778","DOI":"10.1074\/jbc.273.27.16778","article-title":"Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby\u2019s fundus dystrophy mutation","volume":"273","author":"Langton","year":"1998","journal-title":"J. Biol. Chem."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"3579","DOI":"10.1093\/hmg\/ddi385","article-title":"Sorsby\u2019s fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells","volume":"14","author":"Langton","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1002\/jcp.10361","article-title":"Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis","volume":"197","author":"Soboleva","year":"2003","journal-title":"J. Cell Physiol."},{"key":"ref_42","first-page":"2732","article-title":"A mouse model for Sorsby fundus dystrophy","volume":"43","author":"Weber","year":"2002","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_43","doi-asserted-by":"crossref","unstructured":"Bille, J.F. (2019). High Resolution Imaging in Microscopy and Ophthalmology: New Frontiers in Biomedical Optics, Springer.","DOI":"10.1007\/978-3-030-16638-0"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.fsigen.2009.10.007","article-title":"Developmental validation of the PowerPlex 16 HS System: An improved 16-locus fluorescent STR multiplex","volume":"4","author":"Ensenberger","year":"2010","journal-title":"Forensic Sci. Int. Genet."},{"key":"ref_45","first-page":"2482","article-title":"Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus","volume":"17","author":"Laborante","year":"2011","journal-title":"Mol. Vis."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1038\/gim.2018.3","article-title":"ClinGen\u2019s RASopathy Expert Panel consensus methods for variant interpretation","volume":"20","author":"Gelb","year":"2018","journal-title":"Genet. Med."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"1581","DOI":"10.1002\/humu.23636","article-title":"Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel","volume":"39","author":"Mester","year":"2018","journal-title":"Hum. Mutat."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1038\/gim.2018.42","article-title":"The ACMG\/AMP reputable source criteria for the interpretation of sequence variants","volume":"20","author":"Biesecker","year":"2018","journal-title":"Genet. Med."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1016\/j.cardiores.2005.12.002","article-title":"Structure and function of matrix metalloproteinases and TIMPs","volume":"69","author":"Nagase","year":"2006","journal-title":"Cardiovasc. Res."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1017\/S1462399405010045","article-title":"TIMP3 mutation in Sorsby\u2019s fundus dystrophy: Molecular insights","volume":"7","author":"Li","year":"2005","journal-title":"Expert Rev. Mol. 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