{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T01:24:54Z","timestamp":1759541094535,"version":"3.40.4"},"reference-count":12,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2006,12,11]],"date-time":"2006-12-11T00:00:00Z","timestamp":1165795200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2006,12,11]],"date-time":"2006-12-11T00:00:00Z","timestamp":1165795200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ophthalmic Res"],"published-print":{"date-parts":[[2007]]},"abstract":"<i>Background:<\/i> Mutations and polymorphisms have been identified in the <i>CYP1B1<\/i> gene; while mutations that affect the conserved core structures of cytochrome P4501B1 result in primary congenital glaucoma (PCG), mutations in other regions hold the potential to define differences in estrogen metabolism. In the present study, we analyzed the <i>CYP1B1<\/i> gene in Mexican patients with PCG and described four novel mutations. <i>Materials and Methods:<\/i> The sample included 12 nonrelated cases with PCG. Analysis of coding regions of the <i>CYP1B1<\/i> gene was performed through PCR and DNA sequencing analysis from genomic DNA. <i>Results and Discussion:<\/i> Molecular analysis of the <i>CYP1B1<\/i> gene showed the following molecular defects: (1) a novel single-base pair deletion within codon 370 (1454delC) that produces a substitution of leucine instead of proline and a premature stop codon 57 amino acids after the last original amino acid; this family also harbored a novel polymorphic variant of the cytochrome P4501B1 with six single-nucleotide polymorphisms (142C\u2192G; 355G\u2192T; 729G\u2192C; 4326C\u2192G; 4360C\u2192G and 4379C\u2192T); (2) a novel single-base pair deletion within codon 277 (1176delT) that results in a premature stop codon; (3) a novel single-base pair deletion within codon 179 (880delG) that produces a substitution of arginine instead of alanine and a premature stop codon 17 amino acids downstream from the last original amino acid, and (4) a duplication (or insertion) of ten base pairs within codon 404 (1556dupATGCCACCAC) that results in a premature stop codon 26 amino acids after the last original amino acid. We also observed in 2 nonrelated patients a deletion of 13 bp (1410_1422delGAGTGCAGGCAGA) previously reported for other populations. <i>Conclusion:<\/i> We reported four novel mutations and a novel polymorphic variant in the <i>CYP1B1<\/i> gene in PCG in the Mexican population; it has important implications in diagnosis and genetic counseling.<\/jats:p>","DOI":"10.1159\/000097902","type":"journal-article","created":{"date-parts":[[2006,12,13]],"date-time":"2006-12-13T16:57:41Z","timestamp":1166029061000},"page":"17-23","source":"Crossref","is-referenced-by-count":12,"title":["Molecular Analysis of the <i>CYP1B1<\/i> Gene: Identification of Novel Truncating Mutations in Patients with Primary Congenital Glaucoma"],"prefix":"10.1159","volume":"39","author":[{"given":"O.M.","family":"Messina-Baas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.M.","family":"Gonz\u00e1lez-Huerta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Chima-Gal\u00e1n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.H.","family":"Kofman-Alfaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.R.","family":"Rivera-Vega","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Babay\u00e1n-Mena","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.A.","family":"Cuevas-Covarrubias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2006,12,11]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1159%2F000309028"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.271.45.28324"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016%2F0014-5793%2895%2901126-Y"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1086%2F301764"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F6.4.641"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1086%2F301725"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1136%2Fbjo.87.3.302"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.40.1.e9"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1403"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.93.8.3294"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016%2F0022-4731%2886%2990080-4"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1093%2Fcarcin%2F15.5.997"}],"container-title":["Ophthalmic Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/97902","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/97902","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T02:25:51Z","timestamp":1745461551000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000097902"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,12,11]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2007,1,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000097902","archive":["Portico"],"relation":{},"ISSN":["0030-3747","1423-0259"],"issn-type":[{"type":"print","value":"0030-3747"},{"type":"electronic","value":"1423-0259"}],"subject":[],"published":{"date-parts":[[2006,12,11]]}}}