{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:03:36Z","timestamp":1792782216705,"version":"4.5.0"},"reference-count":36,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,8,6]],"date-time":"2019-08-06T00:00:00Z","timestamp":1565049600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Major scientific and technological items of clinical medicine, Jiangsu Province","award":["BL2014014"],"award-info":[{"award-number":["BL2014014"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Brain and Behavior"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>To identify deletions, duplications, and point mutations in 55 previously reported genes associated with Parkinson's disease (PD) and certain genes associated with tremor, spinocerebellar ataxia, and dystonia in a Han Chinese pedigree with early\u2010onset Parkinson's disease (EOPD).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients and Methods<\/jats:title>\n                    <jats:p>\n                      Clinical examinations and genomic analyses were performed on six subjects belonging to three generations of a Han Chinese family. Target region capture and high\u2010throughput sequencing were used to screen these genes associated with PD, tremor, spinocerebellar ataxia, and dystonia. The multiplex ligation\u2010dependent probe amplification (MLPA) method was applied to detect rearrangements in\n                      <jats:italic>PARK2<\/jats:italic>\n                      exons. Direct Sanger sequencing of samples from all subjects further verified the detected abnormal\n                      <jats:italic>PRKRA<\/jats:italic>\n                      ,\n                      <jats:italic>SPTBN2,<\/jats:italic>\n                      and\n                      <jats:italic>ATXN2<\/jats:italic>\n                      gene fragments.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Two family members were diagnosed with PD based on the clinical manifestations, imaging analyses.\n                      <jats:italic>PARK2<\/jats:italic>\n                      gene heterozygous deletion of exon 3 and heterozygous duplication of exon 6 were identified in them (II\u20103 and 4). A single heterozygous deletion of exon 3 in\n                      <jats:italic>PARK2<\/jats:italic>\n                      was detected in II\u20105 and III\u201010. A single duplication of exon 6 in\n                      <jats:italic>PARK2<\/jats:italic>\n                      was detected in I1. Both the heterozygous mutation c.2834G&gt;A (p. R945H) in exon 16 and the heterozygous mutation c.1924 C&gt;T (p. R642W) in exon 14 of the\n                      <jats:italic>SPTBN2<\/jats:italic>\n                      gene were identified in II\u20103, II\u20104, and III\u201010. The heterozygous mutation c.2989 C&gt;T (p. R997X) in exon 24 of the\n                      <jats:italic>ATXN2<\/jats:italic>\n                      gene was detected in II\u20104 and II\u20105, and the heterozygous mutation c.170 C&gt;A (p. S57Y) in exon 2 of the\n                      <jats:italic>PRKRA<\/jats:italic>\n                      gene was detected in II\u20103, II\u20104, and III\u201010. Other mutations in some genes associated with PD, tremor, spinocerebellar ataxia, and dystonia were not detected.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Novel compound heterozygous mutations were identified in a Han Chinese pedigree and might represent a cause of EOPD.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/brb3.1372","type":"journal-article","created":{"date-parts":[[2019,8,6]],"date-time":"2019-08-06T08:57:20Z","timestamp":1565081840000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Han Chinese family with early\u2010onset Parkinson's disease carries novel compound heterozygous mutations in the\n                    <i>PARK2<\/i>\n                    gene"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7540-274X","authenticated-orcid":false,"given":"Ting","family":"Huang","sequence":"first","affiliation":[{"name":"Department of Neurology, Nanjing First Hospital Nanjing Medical University Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen\u2010Yu","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Neurology, Nanjing First Hospital Nanjing Medical University Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liang","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Nanjing First Hospital Nanjing Medical University Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng\u2010Yu","family":"Gong","sequence":"additional","affiliation":[{"name":"Department of Neurology, Nanjing First Hospital Nanjing Medical University Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji\u2010Zheng","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Endocrine and Metabolic Diseases, The First People's Hospital of Hefei Anhui Medical University Hefei China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"You\u2010Yong","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Neurology, Nanjing First Hospital Nanjing Medical University Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying\u2010Dong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Nanjing First Hospital Nanjing Medical University Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,8,6]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.2001.5490"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2010.11.015"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-005-0017-x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001159"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00022.2010"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.freeradbiomed.2013.01.018"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22808"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.24906"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.488"},{"issue":"21","key":"e_1_2_8_11_1","first-page":"1447","article-title":"Exon rearrangement analysis of parkin gene in patients with isolated early\u2010onset parkinsonism using semi\u2010quantitative PCR","volume":"86","author":"Guo J. 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