{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T10:07:12Z","timestamp":1782986832109,"version":"3.54.5"},"reference-count":19,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2016,4,26]],"date-time":"2016-04-26T00:00:00Z","timestamp":1461628800000},"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":[[2016,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Troyer syndrome is a complex hereditary spastic paraplegia (HSP) due to a mutation in <jats:italic>SPG20<\/jats:italic> first reported in the Old Amish population. A genetic mutation in <jats:italic>SPG20<\/jats:italic> is responsible for a loss of function of the protein spartin in this disease. Since its initial report, this syndrome has also been reported in Turkish and Omani families. Here we report the case of three patients of Filipino descent with Troyer syndrome. Whole exome sequencing (WES) identified a homozygous mutation c.364_365delAT which predicts p.Met122Valfs*2 in <jats:italic>SPG20<\/jats:italic>. This is the same mutation identified in affected patients from the Omani and Turkish families, and is the first report of this syndrome in the Filipino population. Although Troyer syndrome has characteristic phenotypic manifestations it is likely underdiagnosed due to its rarity and we expect that WES will lead to identifying this disease in other individuals. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37658","type":"journal-article","created":{"date-parts":[[2016,4,27]],"date-time":"2016-04-27T03:40:55Z","timestamp":1461728455000},"page":"1780-1785","source":"Crossref","is-referenced-by-count":15,"title":["Three cases of Troyer syndrome in two families of Filipino descent"],"prefix":"10.1002","volume":"170","author":[{"given":"Shauna","family":"Butler","sequence":"first","affiliation":[{"name":"Department of Pediatrics San Antonio Military Medical Center JBSA Ft Sam Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine L.","family":"Helbig","sequence":"additional","affiliation":[{"name":"Division of Clinical Genomics Ambry Genetics Aliso Viejo California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy","family":"Alcaraz","sequence":"additional","affiliation":[{"name":"Division of Clinical Genomics Ambry Genetics Aliso Viejo California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurie H.","family":"Seaver","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Hawai\u2018i John A. Burns School of Medicine and Kapi'olani Medical Specialists Honolulu Hawaii"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David T.","family":"Hsieh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics San Antonio Military Medical Center JBSA Ft Sam Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Rohena","sequence":"additional","affiliation":[{"name":"Department of Pediatrics San Antonio Military Medical Center JBSA Ft Sam Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,4,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2014.12.015"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.65.4.520"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182a6ca62"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.127.8.921"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1967.00470230025003"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1295-447"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200808041"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-014-7598-y"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e13-11-0705"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2014.06.011"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21923"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng937"},{"key":"e_1_2_6_14_1","unstructured":"PatelH HarlalkaG CrosbyA.2011. 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