{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:29Z","timestamp":1786976789707,"version":"build-2736575974"},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,3,24]],"date-time":"2014-03-24T00:00:00Z","timestamp":1395619200000},"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":[[2014,5]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Congenital cataracts are the most important cause of severe visual impairment in infants. Genetic factors contribute to the disease development and 29 genes are known to cause congenital cataracts. Identifying the genetic cause of congenital cataracts can be difficult because of genetic heterogeneity. V\u2010maf avian musculoaponeurotic fibrosarcoma oncogene homolog (\n                      <jats:italic>MAF<\/jats:italic>\n                      ) encodes a basic region\/leucine zipper transcription factor that plays a key role as a regulator of embryonic lens fiber cell development.\n                      <jats:italic>MAF<\/jats:italic>\n                      mutations have been reported to cause juvenile\u2010onset pulverulent cataract, microcornea, iris coloboma, and other anterior segment dysgenesis. We report on six patients in a family who have congenital cataracts were identified\n                      <jats:italic>MAF<\/jats:italic>\n                      mutation by whole exome sequencing (WES). The heterozygous\n                      <jats:italic>MAF<\/jats:italic>\n                      mutation Q303L detected in the present family occurs in a well conserved glutamine residue at the basic region of the DNA\u2010binding domain. All affected members showed congenital cataracts. Three of the six members showed microcornea and one showed iris coloboma. Congenital cataracts with\n                      <jats:italic>MAF<\/jats:italic>\n                      mutation exhibited phenotypically variable cataracts within the family. Review of the patients with\n                      <jats:italic>MAF<\/jats:italic>\n                      mutations supports the notion that congenital cataracts caused by\n                      <jats:italic>MAF<\/jats:italic>\n                      mutations could be accompanied by microcornea and\/or iris coloboma. WES is a useful tool for detecting disease\u2010causing mutations in patients with genetically heterogeneous conditions. \u00a9 2014 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36433","type":"journal-article","created":{"date-parts":[[2014,3,24]],"date-time":"2014-03-24T23:24:45Z","timestamp":1395703485000},"page":"1272-1276","source":"Crossref","is-referenced-by-count":31,"title":["Identification of a novel missense mutation of\n                    <i>MAF<\/i>\n                    in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature"],"prefix":"10.1002","volume":"164","author":[{"given":"Yoko","family":"Narumi","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine Matsumoto Japan"},{"name":"Department of Medical Genetics Kitasato University Graduate School of Medical Sciences Sagamihara Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sachiko","family":"Nishina","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology National Center for Child Health and Development Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Motoharu","family":"Tokimitsu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Shinshu University School of Medicine Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Aoki","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Tohoku University School of Medicine Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rika","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics National Center for Child Health and Development Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Wakui","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriyuki","family":"Azuma","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology National Center for Child Health and Development Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshinori","family":"Murata","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Shinshu University School of Medicine Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumio","family":"Takada","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kitasato University Graduate School of Medical Sciences Sagamihara Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshimitsu","family":"Fukushima","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoki","family":"Kosho","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,3,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.021"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.icu.0000243020.82380.f6"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.2010.0227"},{"key":"e_1_2_6_5_1","first-page":"2019","article-title":"Novel MAF mutation in a family with congenital cataract\u2010microcornea 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