{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:43:32Z","timestamp":1761007412625,"version":"build-2065373602"},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,2,5]],"date-time":"2012-02-05T00:00:00Z","timestamp":1328400000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2012,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>Mutations in <jats:italic>parkin<\/jats:italic> are the most frequent cause of autosomal recessive parkinsonism. Quantitative PCR is used to detect <jats:italic>parkin<\/jats:italic> rearrangements. However, the method has an inherent problem\u2014deletion and duplication in the same allelic exon could be determined as normal. To present this misidentification, we report a family with compound heterozygous rearrangements in <jats:italic>parkin<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>A patient with early\u2010onset parkinsonism and the parents were investigated by quantitative PCR, haplotype analysis, reverse\u2010transcription PCR, and direct sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>A single heterozygous duplication (duplication of exons 6\u20137) was identified in the patient by quantitative PCR. Detailed analysis of the family revealed the patient carried compound heterozygous of combined deletion (deletion of exons 3\u20135) and duplication (duplication of exons 3\u20137).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>For correct determination of rearrangement mutation, mutation analysis of the patient as well as other family members and\/or break\u2010point analysis of genomic DNA and at the transcript level should be conducted. \u00a9 2012 Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.24906","type":"journal-article","created":{"date-parts":[[2012,2,5]],"date-time":"2012-02-05T17:35:30Z","timestamp":1328463330000},"page":"552-555","source":"Crossref","is-referenced-by-count":6,"title":["Pseudo\u2010heterozygous rearrangement mutation of <i>parkin<\/i>"],"prefix":"10.1002","volume":"27","author":[{"given":"Manabu","family":"Funayama","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyo","family":"Yoshino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanzhe","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiromichi","family":"Kusaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Tomiyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobutaka","family":"Hattori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,2,5]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/33416"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200005253422103"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.7.489"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10613"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21277"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10524"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181f4d832"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(02)00358-1"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.06.006"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0931262100"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2010.95"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20960"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(07)70174-6"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1159\/000184723"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(08)70048-6"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2009.07.027"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1090278"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000164009.36740.4E"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000254458.17630.c5"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.24906","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.24906","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T13:12:13Z","timestamp":1760965933000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.24906"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2,5]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,4]]}},"alternative-id":["10.1002\/mds.24906"],"URL":"https:\/\/doi.org\/10.1002\/mds.24906","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"type":"print","value":"0885-3185"},{"type":"electronic","value":"1531-8257"}],"subject":[],"published":{"date-parts":[[2012,2,5]]}}}