{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T17:31:42Z","timestamp":1790011902695,"version":"4.0.1"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,9,19]],"date-time":"2019-09-19T00:00:00Z","timestamp":1568851200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["nyaspubs.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of the New York Academy of Sciences"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Troyer syndrome is an autosomal recessive disease characterized by spastic paralysis, dysarthria, distal amyotrophy, and short stature. Recently, two siblings (an older brother and a younger sister) were admitted to our hospital for the chief complaints of \u201cshort stature and intellectual disability.\u201d Through whole exome sequencing of the sister, who is the proband, it was found that her <jats:italic>SPG20<\/jats:italic> gene had compound heterozygous mutations: c.364_365delAT (p.Met122Valfs<jats:sup>*<\/jats:sup>2) and c.892delA (p.Thr298Glnfs<jats:sup>*<\/jats:sup>30). Target testing revealed that the brother had the same genotype as the sister, and the former mutation originated from the father, while the latter mutation originated from the mother. In summary, this is the first report of Troyer syndrome in a family caused by <jats:italic>SPG20<\/jats:italic> compound heterozygous mutations. A novel <jats:italic>SPG20<\/jats:italic> mutation was found, namely c.892delA (p.Thr298Glnfs<jats:sup>*<\/jats:sup>30). In addition, we also summarize these Troyer syndrome patients\u2019 heights and their clinical characteristics, and provide a brief review of all known pathogenic mutations of <jats:italic>SPG20<\/jats:italic>.<\/jats:p>","DOI":"10.1111\/nyas.14229","type":"journal-article","created":{"date-parts":[[2019,9,19]],"date-time":"2019-09-19T10:29:42Z","timestamp":1568888982000},"page":"118-127","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Dwarfism in Troyer syndrome: a family with <i>SPG20<\/i> compound heterozygous mutations and a literature review"],"prefix":"10.1111","volume":"1462","author":[{"given":"Hanting","family":"Liang","sequence":"first","affiliation":[{"name":"Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Miao","sequence":"additional","affiliation":[{"name":"Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongbo","family":"Yang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengying","family":"Gong","sequence":"additional","affiliation":[{"name":"Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shi","family":"Chen","sequence":"additional","affiliation":[{"name":"Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linjie","family":"Wang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huijuan","family":"Zhu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Pan","sequence":"additional","affiliation":[{"name":"Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,9,19]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1967.00470230025003"},{"key":"e_1_2_8_3_1","unstructured":"Baple E.&A.Crosby.2004.Troyer syndrome overview. 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