{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T11:27:36Z","timestamp":1787657256251,"version":"build-2736575974"},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2006,7,14]],"date-time":"2006-07-14T00:00:00Z","timestamp":1152835200000},"content-version":"vor","delay-in-days":4669,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[1993,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disease, characterized by the development of bilateral vestibular schwannomas. The <jats:italic>NF2<\/jats:italic> gene has been assigned to chromosome 22. Cataract and other eye abnormalities are frequently seen in NF2 patients. The specific association of eye abnormalities and NF2 might be caused by a genetic change on chromosome 22 that affects both the <jats:italic>NF2<\/jats:italic> gene and a physically linked crystallin gene. In order to test this hypothesis, we regionally localized the known crystallin genes (i.e. <jats:italic>CRYBB2, CRYBB2P1, CRYBB3<\/jats:italic>, and <jats:italic>CRYBA4<\/jats:italic>) on chromosome 22. Crystallin gene\u2010specific probes were hybridized to an extended panel of human x rodent somatic cell hybrids containing various portions of chromosome 22. It was found that all crystallin genes map to a very small region on chromosome 22 that is physically separate from the <jats:italic>NF2<\/jats:italic> gene region by at least 160 kb of DNA. In addition, we found that the \u03b2B crystallin genes (<jats:italic>CRYBB2, CRYBB2P1<\/jats:italic>, and <jats:italic>CRYBB3<\/jats:italic>) are clustered on a 300 kb Sacll fragment and that the \u03b2A4 crystallin gene (<jats:italic>CRYBA4<\/jats:italic>) is not part of this cluster. We conclude that the ocular manifestations in many NF2 patients are probably not the primary consequence of rearrangements on chromosome 22 that involve both the <jats:italic>NF2<\/jats:italic> gene and a nearby \u03b2 crystallin gene.\\\\wiley5\\wiley$\\Wiley\u2010JWPH\\final\\jwph471<\/jats:p>","DOI":"10.1002\/gcc.2870080208","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T23:38:45Z","timestamp":1172101125000},"page":"112-118","source":"Crossref","is-referenced-by-count":7,"title":["Regional fine mapping of the \u03b2 crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2"],"prefix":"10.1002","volume":"8","author":[{"given":"Emilia K.","family":"Bijlsma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Delattre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenneke A.","family":"Juyn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Melot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andries","family":"Westerveld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan P.","family":"Dumanski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilles","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theo J. M.","family":"Hulsebos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,7,14]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0378-1119(87)90273-3"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02103427"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4835(92)90036-R"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90253-B"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"6742","DOI":"10.1016\/S0021-9258(20)89562-3","article-title":"Deletion mutation in an eye lens \u03b2\u2010crystallin\u2013an animal model for inherited cataracts","volume":"266","author":"Chambers C","year":"1991","journal-title":"J Biol Chem"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90366-M"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90079-T"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.12.847"},{"key":"e_1_2_1_10_1","first-page":"721","article-title":"Refined physical and genetic mapping of the NF1 region on chromosome 17","volume":"45","author":"Fain PR","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","first-page":"110","article-title":"A human sequence which cross hybridizes to bovine B2 crystallin displays an informative Pstl polymorphism and maps to chromosome 22","volume":"51","author":"Fontaine B","year":"1989","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(86)90403-3"},{"key":"e_1_2_1_13_1","doi-asserted-by":"crossref","first-page":"12420","DOI":"10.1016\/S0021-9258(18)67257-6","article-title":"Characterization of the human \u03b2\u2010crystallin gene Hu\u03b2A3\/A1 reveals ancestral relationships among the \u03b2\u03b3\u2010crystallin superfamily","volume":"261","author":"Hogg D","year":"1986","journal-title":"J Biol Chem"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.3109\/02713688708997559"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1104"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000133080"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1989.01070010555030"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(92)31789-0"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132279"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.2.489"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90140-N"},{"key":"e_1_2_1_22_1","first-page":"486","article-title":"Neurofibromatosis type 2 appears to be a genetically homogeneous disease","volume":"51","author":"Narod SA","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.5.1314"},{"key":"e_1_2_1_24_1","doi-asserted-by":"crossref","unstructured":"RuttledgeMH NarodSA DumanskiJP ParryDM EldrigeR WerteleckiW ParboosinghJ FaucherM\u2010C LenoirGM CollinsVP Nordenskj\u00f6ldM RouleauGA(1993) Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers.Neurology: in press.","DOI":"10.1212\/WNL.43.9.1753"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.12.5463"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/0378-1119(91)90076-N"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1159\/000133403"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2134734"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.2870050402"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.2870080208","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.2870080208","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T09:01:48Z","timestamp":1698224508000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.2870080208"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,10]]},"references-count":28,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1993,10]]}},"alternative-id":["10.1002\/gcc.2870080208"],"URL":"https:\/\/doi.org\/10.1002\/gcc.2870080208","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,10]]}}}