{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T17:09:16Z","timestamp":1783789756659,"version":"3.55.0"},"reference-count":45,"publisher":"Walter de Gruyter GmbH","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,10,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2020-0056_abs_001_w2aab3b7c15b1b6b1aab1c15b1Aa\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Fabry disease (FD, OMIM #301500) is a rare and progressive X-linked lysosomal storage disorder. FD is caused by mutations in the <jats:italic>GLA<\/jats:italic> gene on chromosome Xq22.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0056_abs_002_w2aab3b7c15b1b6b1aab1c15b2Aa\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>In this article, we aimed to present the largest sample of <jats:italic>GLA<\/jats:italic> mutation spectrum including common and novel variants in Turkish population. <jats:italic>GLA<\/jats:italic> gene sequence analysis was performed on the subjects who applied to the department of medical genetics with the preliminary diagnosis of FD between 2013 and 2018.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0056_abs_003_w2aab3b7c15b1b6b1aab1c15b3Aa\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We detected 22 different mutations as two novel [(p.F69S(c.206T&gt;C), p.P205A (c.613C&gt;G)] and 20 previously reported <jats:italic>GLA<\/jats:italic> mutations in 47 individuals from 22 unrelated families. These mutations included 14 missense mutations, four nonsense mutations, two small deletions, one small deletion\/insertion and one small insertion. Major clinical findings of the female case with p.F69S(c.206T&gt;C) mutation were cornea verticillata, acroparesthesia, angiokeratoma, psychiatric and gastrointestinal symptoms. Other novel mutation (p.P205A [c.613C&gt;G]) was carried by a male case presenting gastrointestinal symptoms.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0056_abs_004_w2aab3b7c15b1b6b1aab1c15b4Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>We described clinical findings of two cases that had novel mutations to provide more insight in genotype-phenotype correlation. We presented the largest mutation spectrum in Turkish population and reviewed previous mutations in this article.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2020-0056","type":"journal-article","created":{"date-parts":[[2020,9,30]],"date-time":"2020-09-30T21:45:42Z","timestamp":1601502342000},"page":"1245-1250","source":"Crossref","is-referenced-by-count":5,"title":["Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population"],"prefix":"10.1515","volume":"33","author":[{"given":"H\u00fcseyin","family":"Onay","sequence":"first","affiliation":[{"name":"Department of Medical Genetics , Ege University Faculty of Medicine , Izmir , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilmi","family":"Bolat","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Bal\u0131kesir Atat\u00fcrk City Hospital , Balikesir , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gonca","family":"K\u0131l\u0131\u00e7 Y\u0131ld\u0131r\u0131m","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Metabolism and Nutrition , Eskisehir Osmangazi University Faculty of Medicine , Eskisehir , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Engin","family":"Kose","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Division of Pediatric Metabolism and Nutrition , Ankara University Faculty of Medicine , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sema","family":"Kalkan U\u00e7ar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Metabolism and Nutrition , Ege University Faculty of Medicine , Izmir , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Semih","family":"A\u015f\u0131koval\u0131","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Ege University Faculty of Medicine , Izmir , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferda","family":"\u00d6zk\u0131nay","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Ege University Faculty of Medicine , Izmir , Turkey"},{"name":"Department of Pediatrics, Division of Pediatric Genetics , Ege University Faculty of Medicine , Izmir , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmut","family":"\u00c7oker","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Metabolism and Nutrition , Ege University Faculty of Medicine , Izmir , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2020,8,19]]},"reference":[{"key":"2023040101055565495_j_jpem-2020-0056_ref_001_w2aab3b7c15b1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Sirrs, S, Hollak, C, Merkel, M, Sechi, A, Glamuzina, E, Janssen, MC, et al. 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