{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T16:38:52Z","timestamp":1780677532368,"version":"3.54.1"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,12,19]],"date-time":"2017-12-19T00:00:00Z","timestamp":1513641600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Science and Technology Office, Henan Province","award":["124300510017"],"award-info":[{"award-number":["124300510017"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain and Behavior"],"published-print":{"date-parts":[[2018,1]]},"abstract":"Abstract<\/jats:title>Objects<\/jats:title>To capture point mutations and short insertions\/deletions in 49 previously reported genes associated with Parkinson's disease (PD<\/jats:styled-content>) in a Chinese pedigree with early\u2010onset Parkinson's disease (EOPD<\/jats:styled-content>)\u2010affected individuals.<\/jats:p><\/jats:sec>Methods<\/jats:title>Clinical examinations and genomic analysis were performed on 21 subjects belonging to three generations of a Chinese family. Target region capture and high\u2010throughput sequencing were used for screening 49 genes, which were previously reported to be associated with PD<\/jats:styled-content>. The direct Sanger sequencing method in all subjects further verified the abnormal DNA<\/jats:styled-content> fragments in the PARK<\/jats:styled-content>2<\/jats:italic> gene.<\/jats:p><\/jats:sec>Results<\/jats:title>Four family members, including a mother (I\u20101) and her three children (II<\/jats:styled-content>\u20102, II<\/jats:styled-content>\u20103, and II<\/jats:styled-content>\u20107), were diagnosed with PD<\/jats:styled-content> by clinical manifestations and\/or PET<\/jats:styled-content>\/CT<\/jats:styled-content> imaging analyses. Novel compound heterozygous mutations, consisting of a fragment deletion in exon 1 to 2 (EX<\/jats:styled-content> 1\u20102 del) and a splicing point mutation c.619\u20101 (G\u00a0>\u00a0C) in the 6th intron of the PARK<\/jats:styled-content>2<\/jats:italic> gene, were identified in II<\/jats:styled-content>\u20102, II<\/jats:styled-content>\u20103, and II<\/jats:styled-content>\u20107. Individual EX<\/jats:styled-content> 1\u20102 del or c.619\u20101 (G\u00a0>\u00a0C) mutations were detected in I\u20101 and the third generation (III<\/jats:styled-content>\u20102, 3, 5, 10, and 11).Other mutations were not detected in the 49 known PD<\/jats:styled-content>\u2010associated genes.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Novel compound heterozygous mutations were identified in a Chinese pedigree and might represent a cause of familial EOPD<\/jats:styled-content> with autosomal dominant inheritance.<\/jats:p><\/jats:sec>","DOI":"10.1002\/brb3.901","type":"journal-article","created":{"date-parts":[[2017,12,19]],"date-time":"2017-12-19T07:56:48Z","timestamp":1513670208000},"source":"Crossref","is-referenced-by-count":7,"title":["Novel compound heterozygous mutations in the PARK<\/scp>2<\/i> gene identified in a Chinese pedigree with early\u2010onset Parkinson's 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