{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T23:19:21Z","timestamp":1712013561761},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2009,5,15]],"date-time":"2009-05-15T00:00:00Z","timestamp":1242345600000},"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":[[2009,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on complex rearrangements of the 7q21.3 region in a female patient with bilateral split\u2010foot malformation and hearing loss. G\u2010banding karyotype was 46,XX,t(7;15)(q21;q15),t(9;14)(q21;q11.2)dn. By fluorescence, in situ hybridization (FISH), Southern hybridization, and inverse PCR, the 7q21.3 translocation breakpoint was determined at the nucleotide level. The breakpoint did not disrupt any genes, but was mapped to 38\u2010kb telomeric to the <jats:italic>DSS1<\/jats:italic> gene, and 258\u2010 and 272\u2010kb centromeric to the <jats:italic>DLX6<\/jats:italic> and <jats:italic>DLX5<\/jats:italic> genes, respectively. It remains possible that the translocation would disrupt the interaction between these genes and their regulatory elements. Interestingly, microarray analysis also revealed an interstitial deletion close to (but not continuous to) the 7q21.3 breakpoint, indicating complex rearrangements within the split\u2010hand\/foot malformation 1 (<jats:italic>SHFM1<\/jats:italic>) locus in this patient. Furthermore, a 4.6\u2010Mb deletion at 15q21.1\u2010q21.2 adjacent to the 15q15 breakpoint was also identified. Cloning of the deletion junction at 7q21.3 revealed that the 0.8\u2010Mb deletion was located 750\u2010kb telomeric to the translocation breakpoint, encompassing <jats:italic>TAC1<\/jats:italic>, <jats:italic>ASNS<\/jats:italic>, <jats:italic>OCM<\/jats:italic>, and a part of <jats:italic>LMTK2<\/jats:italic>. Because <jats:italic>TAC1<\/jats:italic>, <jats:italic>ASNS<\/jats:italic>, and <jats:italic>OCM<\/jats:italic> genes were located on the reported copy number variation regions, it was less likely that the three genes were related to the split\u2010foot malformation. <jats:italic>LMTK2<\/jats:italic> appeared to be a potential candidate gene for SHFM1, but no <jats:italic>LMTK2<\/jats:italic> mutations were found in 29 individuals with SHFM. Further <jats:italic>LMTK2<\/jats:italic> analysis of SHFM patients together with hearing loss is warranted. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32877","type":"journal-article","created":{"date-parts":[[2009,5,16]],"date-time":"2009-05-16T00:14:24Z","timestamp":1242432864000},"page":"1224-1230","source":"Crossref","is-referenced-by-count":15,"title":["Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split\u2010foot malformation and hearing 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