{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T12:21:23Z","timestamp":1784204483326,"version":"3.55.0"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,5,10]],"date-time":"2002-05-10T00:00:00Z","timestamp":1020988800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Nonsyndromic congenital microphthalmia or anophthalmia is a heterogeneous malformation with autosomal dominant, autosomal recessive, and X\u2010linked modes of inheritance. Lenz microphthalmia syndrome comprises microphthalmia with mental retardation, malformed ears, skeletal anomalies, and is inherited in an X\u2010linked recessive pattern. Prior studies have shown linkage of both isolated (or nonsyndromic) anophthalmos (ANOP1, [MIM 301590]) and Lenz syndrome [MIM 309800] to Xq27\u2013q28. Nonsyndromic colobomatous microphthalmia [MIM 300345] has been linked to Xp11.4\u2013Xq11.1. We describe a five\u2010generation African\u2010American family with microphthalmia or anophthalmia, mental retardation, and urogenital anomalies, in an X\u2010linked recessive inheritance pattern, consistent with Lenz syndrome. Initial linkage analysis with microsatellite markers excluded the region in Xq27\u2013q28 previously reported as a candidate region for ANOP1 [MIM 301590]. An X\u2010chromosome scan revealed linkage to a 10\u2010cM region between markers DXS228 and DXS992 in Xp11.4\u2013p21.2. Multipoint analysis gave a maximum LOD score of 2.46 at marker DXS993. These data show that X\u2010linked recessive syndromic microphthalmia exhibits genetic heterogeneity. In addition, it suggests that Lenz microphthalmia syndrome, previously thought to be a single disorder, may represent an amalgam of two distinct disorders. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10484","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T11:34:39Z","timestamp":1033904079000},"page":"308-314","source":"Crossref","is-referenced-by-count":31,"title":["Genetic heterogeneity of syndromic X\u2010linked recessive microphthalmia\u2010anophthalmia: Is Lenz microphthalmia a single disorder?"],"prefix":"10.1002","volume":"110","author":[{"given":"David","family":"Ng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald W.","family":"Hadley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia J.","family":"Tifft","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie G.","family":"Biesecker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,5,10]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"342","article-title":"A sporadic case of Lenz microphthalmia syndrome","volume":"25","author":"Antoniades K","year":"1993","journal-title":"Ann Ophthalmol"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01420.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/302011"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1984.01040030092044"},{"key":"e_1_2_7_6_1","unstructured":"CEPH.http:\/\/www.cephb.fr"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010101)98:1<92::AID-AJMG1009>3.0.CO;2-O"},{"key":"e_1_2_7_8_1","first-page":"41","article-title":"Lenz microphthalmia: a malformation syndrome with variable expression of multiple congenital anomalies","volume":"18","author":"Glanz A","year":"1983","journal-title":"Can J Ophthalmol"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(71)90588-5"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816819109023084"},{"issue":"2","key":"e_1_2_7_11_1","first-page":"138","article-title":"The Lenz microphthalmia syndrome","volume":"5","author":"Hermann J","year":"1969","journal-title":"Birth Defects Orig Art Ser"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1963.00960040766015"},{"key":"e_1_2_7_13_1","unstructured":"Human Genome Working Draft.http:\/\/genome.ucsc.edu"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1330"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00437927"},{"key":"e_1_2_7_16_1","unstructured":"Marshfield.http:\/\/research.marshfieldclinic.org\/genetics"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000152765"},{"key":"e_1_2_7_18_1","unstructured":"Online Mendelian Inheritance in Man (OMIM).http:\/\/www.ncbi.nlm.nih.gov\/Omim"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.7.604"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816818309007826"},{"key":"e_1_2_7_21_1","first-page":"147","article-title":"Lenz microphthalmia syndrome: three additional cases with rare associated anomalies","volume":"11","author":"Temtamy SA","year":"2000","journal-title":"Genet Couns"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(88)90119-5"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.8.664"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1989.01070020703032"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10484","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10484","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T21:30:44Z","timestamp":1697491844000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10484"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,5,10]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,7,15]]}},"alternative-id":["10.1002\/ajmg.10484"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10484","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,5,10]]}}}