{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T19:59:26Z","timestamp":1776801566382,"version":"3.51.2"},"reference-count":17,"publisher":"S. Karger AG","issue":"1-4","license":[{"start":{"date-parts":[[2002,1,1]],"date-time":"2002-01-01T00:00:00Z","timestamp":1009843200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2002,1,1]],"date-time":"2002-01-01T00:00:00Z","timestamp":1009843200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2002]]},"abstract":"<jats:p>The microphthalmia with linear skin defects syndrome (MLS) is an X-linked dominant disorder with male lethality. In the majority of the patients reported, the MLS syndrome is caused by segmental monosomy of the Xp22.3 region. To date, five male patients with MLS and 46,XX karyotype (\u201cXX males\u201d) have been described. Here we report on the first male case with MLS and an XY complement. The patient showed agenesis of the corpus callosum, histiocytoid cardiomyopathy, and lactic acidosis but no microphthalmia, and carried a mosaic subtle inversion of the short arm of the X chromosome in 15% of his peripheral blood lymphocytes, 46,Y,inv(X)(p22.13\u223c22.2p22.32\u223c22.33)[49]\/46,XY[271]. By fluorescence &lt;i&gt;in situ&lt;\/i&gt; hybridization (FISH), we showed that YAC 225H10 spans the breakpoint in Xp22.3. End-sequencing and database analysis revealed a YAC insert of at least 416 kb containing the genes HCCS and AMELX, and exons 2\u201316 of ARHGAP6. Molecular cytogenetic data suggest that the Xp22.3 inversion breakpoint is located in intron 1 of ARHGAP6, the gene encoding the Rho GTPase activating protein 6. Future molecular studies in karyotypically normal female MLS patients to detect submicroscopic rearrangements including the ARHGAP6 gene as well as mutation screening of ARHGAP6 in patients with no obvious chromosomal rearrangements will clarify the role of this gene in MLS syndrome. \u00a0\u00a0\u00a0<\/jats:p>","DOI":"10.1159\/000071607","type":"journal-article","created":{"date-parts":[[2003,8,6]],"date-time":"2003-08-06T10:32:03Z","timestamp":1060165923000},"page":"297-302","source":"Crossref","is-referenced-by-count":18,"title":["Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp"],"prefix":"10.1159","volume":"99","author":[{"given":"K.","family":"Kutsche","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Werner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Bartsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"von der Wense","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Meinecke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Gal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2003,8,14]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1272"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200378"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02661-1"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200203"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1101\/gr.10.5.597"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1086\/324591"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s100380050110"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.3.CO;2-B"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2002.6834"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050782"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0261"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.5040"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2001.6677"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980226)76:1<37::AID-AJMG6>3.0.CO;2-M"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200745"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-15398"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.1998.02277.x"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/71607","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/71607","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:31:46Z","timestamp":1745465506000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000071607"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002]]},"references-count":17,"journal-issue":{"issue":"1-4","published-online":{"date-parts":[[2002,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000071607","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"value":"1424-8581","type":"print"},{"value":"1424-859X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002]]}}}