{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T13:36:53Z","timestamp":1762868213692,"version":"3.41.2"},"reference-count":20,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,6,17]],"date-time":"2020-06-17T00:00:00Z","timestamp":1592352000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Stickler Syndrome is a rare connective tissue disorder, characterized by clinical, and genetic heterogeneity. The clinical expression is highly variable, including moderate to severe myopia in childhood, hearing loss, facial dysmorphic features, cleft palate, and early osteoarthritis. <jats:italic>COL2A1<\/jats:italic>, <jats:italic>COL11A1<\/jats:italic>, and <jats:italic>COL11A2<\/jats:italic> mutations account of the majority of autosomal dominant Stickler Syndrome and, in particular, a heterozygous mutation in <jats:italic>COL11A1<\/jats:italic> gene is identified in about 10 to 20% of Stickler Syndrome patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Herein, we report a case of an 8\u2010year\u2010 old child with Stickler Syndrome, presenting with early\u2010onset of myopia with vitreal abnormalities, facial dysmorphic characteristics, and mild hearing loss later in childhood. To identify the underlying genetic cause, Whole Exome Sequencing was carried out for <jats:italic>COL11A1<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel de novo heterozygous splice site variant (NM_001854: c.1845\u00a0+\u00a05G&gt; C) of the <jats:italic>COL11A1<\/jats:italic> gene, which had not been previously reported, was identified by Whole Exome Sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We reported a novel <jats:italic>COL11A1<\/jats:italic> mutation in a child with Stickler Syndrome presenting a phenotype of early\u2010onset of ocular anomalies and mild hearing loss later in childhood. Our findings confirm the variability of the expression of the disease, even in the contest of the same gene\u2010related disorder, thus, contributing to improve the knowledge on clinical and molecular basis of this rare disease.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1353","type":"journal-article","created":{"date-parts":[[2020,6,17]],"date-time":"2020-06-17T11:13:35Z","timestamp":1592392415000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Variable clinical expression of Stickler Syndrome: A case report of a novel <i>COL11A1<\/i> mutation"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8067-5101","authenticated-orcid":false,"given":"Evelise","family":"Brizola","sequence":"first","affiliation":[{"name":"Department of Rare Skeletal Disorders IRCCS Istituto Ortopedico Rizzoli Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5907-7470","authenticated-orcid":false,"given":"Maria","family":"Gnoli","sequence":"additional","affiliation":[{"name":"Department of Rare Skeletal Disorders IRCCS Istituto Ortopedico Rizzoli Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Morena","family":"Tremosini","sequence":"additional","affiliation":[{"name":"Department of Rare Skeletal Disorders IRCCS Istituto Ortopedico Rizzoli Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Nucci","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Community Health University of Milan Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Bargiacchi","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Meyer Children's University Hospital Florence Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"La Barbera","sequence":"additional","affiliation":[{"name":"Biomedical Experimental and Clinical Sciences \"Mario Serio\" University of Florence Firenze Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3954-326X","authenticated-orcid":false,"given":"Sabrina","family":"Giglio","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Meyer Children's University Hospital Florence Italy"},{"name":"Biomedical Experimental and Clinical Sciences \"Mario Serio\" University of Florence Firenze Italy"},{"name":"Excellence Centre for Research Transfer and High Education for the development of DE NOVO Therapies (DENOTHE) Florence Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Sangiorgi","sequence":"additional","affiliation":[{"name":"Department of Rare Skeletal Disorders &amp; CLIBI Laboratory IRCCS Istituto Ortopedico Rizzoli Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,6,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20107\u201084"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10619"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jval.2018.03.002"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13465"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbspin.2010.03.012"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2017.40"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jval.2018.03.002"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2015.43"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.03.005"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240302"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31586"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.crad.2018.03.004"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010018\u20100316\u2010y"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1597\/02-055"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21257"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_18_1","first-page":"1993","volume-title":"GeneReviews\u00ae","author":"Robin N. 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