{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T20:02:48Z","timestamp":1787169768769,"version":"build-2736575974"},"reference-count":32,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:sec>\n                    <jats:title>PURPOSE:<\/jats:title>\n                    <jats:p>The purpose of this study was to identify gene mutation and phenotype correlations in a cohort of Taiwanese patients with Stickler syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>MATERIALS AND METHODS:<\/jats:title>\n                    <jats:p>\n                      Patients clinically diagnosed with Stickler syndrome or suspected Stickler syndrome were enrolled. DNA was extracted from venous blood samples. For the targeted next-generation sequencing (NGS) approach, specific primers were designed for all\n                      <jats:italic toggle=\"yes\">COL2A1<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">COL11A1<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">COL11A2<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">COL9A1<\/jats:italic>\n                      , and\n                      <jats:italic toggle=\"yes\">COL9A2<\/jats:italic>\n                      exons and flanking intron sequences.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS:<\/jats:title>\n                    <jats:p>\n                      Twenty-three patients from 12 families were enrolled in this study. The myopia power in these 23 cases (35 eyes) ranged from \u22124.625 to \u221225.625 D, with a median of \u221210.00 D. Four patients had retinal detachment. Fourteen patients had a cleft palate. These 23 patients and 13 healthy controls were enrolled in the NGS study. Three families had significant single nucleotide variants (SNVs) in\n                      <jats:italic toggle=\"yes\">COL2A1<\/jats:italic>\n                      . The mutation rates in this survey were 25% (3\/12 families) and 35% (8\/23 cases). The SNV of family #1, located at exon 27, c.1753G &gt;T, p. Gly585Val, was novel and has not yet been reported in the ClinVar database. Families #10 and #11 had the same SNV, located in exon 33, c.2101C &gt;T, p. Arg701X. Both variants were classified as likely pathogenic according to the American College of Medical Genetics and Genomics guidelines.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSION:<\/jats:title>\n                    <jats:p>\n                      Genetic mutations in\n                      <jats:italic toggle=\"yes\">COL2A1<\/jats:italic>\n                      were found in 25% of Taiwanese families with Stickler syndrome. One novel variant was identified using NGS, which expanded the\n                      <jats:italic toggle=\"yes\">COL2A1<\/jats:italic>\n                      mutation spectrum. Molecular genetic analysis is helpful to confirm the clinical diagnosis of patients with suspected Stickler syndrome.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/tjo.tjo_3_22","type":"journal-article","created":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T06:18:34Z","timestamp":1649830714000},"page":"423-429","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["Mutation survey in Taiwanese patients with Stickler syndrome"],"prefix":"10.4103","volume":"12","author":[{"given":"Faye","family":"Huang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tzu-Jou","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wan-Hua","family":"Cho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Hao","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei-Chang","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsi-Kung","family":"Kuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-6-20240830","first-page":"433","article-title":"Hereditary progressive 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