{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:41:02Z","timestamp":1791268862891,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2006,2,6]],"date-time":"2006-02-06T00:00:00Z","timestamp":1139184000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2006,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Congenital cataract, a clinically and genetically highly heterogeneous eye disorder, is one of the significant causes of visual impairment or blindness in children. It is frequently inherited as an autosomal dominant trait. We investigated a three\u2010generation family of Indian origin with 12 members affected with cerulean cataract. Linkage analysis was carried out in this family using more than 100 microsatellite markers for the known cataract candidate gene loci. A positive two\u2010point lod score of 3.9 at \u03b8\u2009=\u20090.000, indicative of linkage, was obtained with three microsatellite markers for chromosome 16. Multipoint and haplotype analysis narrowed the cataract locus to a 15.3 cM region between markers D16S518 and D16S511 that corresponds to the region 16q23.1. Direct sequencing of the candidate gene\n                    <jats:italic>MAF<\/jats:italic>\n                    , which lies in the critical linked region, revealed a novel heterozygous missense mutation in the basic region (BR) of the DNA\u2010binding domain. This sequence change was considered pathogenic as it segregated in all affected family members, neither seen in unaffected family members nor in 106 unrelated controls. The mutation also results in substitution of highly conserved lysine 297 by arginine (K297R) that affects a residue that forms a part of a predicted DNA\u2010interaction region of the protein. The association of microcornea with congenital cataract in some affected individuals further underlines the role of the\n                    <jats:italic>MAF<\/jats:italic>\n                    transcription factor in lens and anterior ocular development. Our findings expand the mutation spectrum of\n                    <jats:italic>MAF<\/jats:italic>\n                    in association with congenital cataract and highlight the genetic and phenotypic heterogeneity of congenital cataract. \u00a9 2006 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.31126","type":"journal-article","created":{"date-parts":[[2006,2,9]],"date-time":"2006-02-09T17:21:43Z","timestamp":1139505703000},"page":"558-566","source":"Crossref","is-referenced-by-count":56,"title":["A novel mutation in the DNA\u2010binding domain of\n                    <i>MAF<\/i>\n                    at 16q23.1 associated with autosomal dominant \u201ccerulean cataract\u201d in an Indian family"],"prefix":"10.1002","volume":"140A","author":[{"given":"Vanita","family":"Vanita","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daljit","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter N.","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl","family":"Sperling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jai Rup","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,2,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0039-6257(02)00462-9"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0195-37"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V91.12.4457.412k48_4457_4463"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.83.7.802"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.1.33"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1128\/jvi.67.4.2133-2141.1993"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.15.4.2180"},{"key":"e_1_2_6_9_1","first-page":"53","article-title":"Transactivation activity of Maf nuclear oncoprotein is modulated by Jun, Fos and small Maf proteins","volume":"12","author":"Kataoka K","year":"1996","journal-title":"Oncogene"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.27.19254"},{"key":"e_1_2_6_11_1","first-page":"3781","article-title":"Requirement for the c\u2010Maf transcription factor in crystallin gene regulation and lens development","volume":"96","author":"Kim JI","year":"1999","journal-title":"Dev Bio"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0395"},{"key":"e_1_2_6_13_1","first-page":"1347","article-title":"Parametric and nonparametric linkage analysis: A unified multipoint approach","volume":"58","author":"Kruglyak L","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nsb771"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0039-6257(96)82011-X"},{"key":"e_1_2_6_16_1","first-page":"460","article-title":"Easy calculations of lod scores and genetic risks on small computers","volume":"36","author":"Lathrop GM","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.5.665"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.3.471"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03634.x"},{"key":"e_1_2_6_20_1","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1093\/hmg\/ddg063","article-title":"A dominant mutation within the DNA\u2010binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding","volume":"15","author":"Lyon MF","year":"2003","journal-title":"Hum Mol Genet"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.4.262"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.280.5360.115"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.127.2.307"},{"key":"e_1_2_6_24_1","first-page":"1321","article-title":"Congenital ocular blindness in children, 1945 to 1984","volume":"141","author":"Robinson GC","year":"1987","journal-title":"Am J Dis Child"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg520"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(94)31246-2"},{"key":"e_1_2_6_27_1","unstructured":"VanitaV.1998.Genetical investigations in congenital cataract cases. Ph.D thesis Guru Nanak Dev University Amritsar India."},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.560507.x"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02140965"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02140963"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31126","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31126","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T01:58:00Z","timestamp":1697594280000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31126"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,2,14]]},"references-count":29,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2006,3,15]]}},"alternative-id":["10.1002\/ajmg.a.31126"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31126","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,2,14]]}}}