{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T11:28:35Z","timestamp":1769340515343,"version":"3.49.0"},"reference-count":12,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2016,9,29]],"date-time":"2016-09-29T00:00:00Z","timestamp":1475107200000},"content-version":"vor","delay-in-days":28,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Grant-in-Aid for Research on Rare and Intractable Diseases, Health and Labour Sciences Research"},{"name":"Grant-in-Aid for Pediatric Research from the Ministry of Health, Labor and Welfare"},{"name":"Grant-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In the prenatal diagnosis of Gaucher disease (<jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content>), glucocerebrosidase (<jats:styled-content style=\"fixed-case\">GBA<\/jats:styled-content>) activity is measured with fetal cells, and gene analysis is performed when pathogenic mutations in <jats:italic><jats:styled-content style=\"fixed-case\">GBA<\/jats:styled-content><\/jats:italic> are identified in advance. Herein is described prenatal diagnosis in a family in which two children had <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content>. Although prior genetic information for this <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content> family was not obtained, next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>) was carried out for this family because immediate prenatal diagnosis was necessary. Three mutations were identified in this <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content> family. The father had one mutation in intron 3 (<jats:styled-content style=\"fixed-case\">IVS<\/jats:styled-content>2\u00a0+\u00a01), the mother had two mutations in exons 3 (I[\u201020]V) and 5 (M85T), and child 1 had all three of these mutations; child 3 had none of these mutations. On <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> the present fetus (child 3) was not a carrier of <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content>\u2010related mutations. <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> may facilitate early detection and treatment before disease onset.<\/jats:p>","DOI":"10.1111\/ped.13069","type":"journal-article","created":{"date-parts":[[2016,9,29]],"date-time":"2016-09-29T13:12:21Z","timestamp":1475154741000},"page":"946-949","source":"Crossref","is-referenced-by-count":20,"title":["Prenatal diagnosis of <scp>G<\/scp>aucher disease using next\u2010generation sequencing"],"prefix":"10.1111","volume":"58","author":[{"given":"Shinichiro","family":"Yoshida","sequence":"first","affiliation":[{"name":"Department of Pediatrics Graduate School of Medical Sciences Kumamoto University Kumamoto Japan"},{"name":"Chemo\u2010Sero\u2010Therapeutic Research Institute (KAKETSUKEN) Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Kido","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medical Sciences Kumamoto University Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shirou","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medical Sciences Kumamoto University Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ken","family":"Momosaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medical Sciences Kumamoto University Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Mitsubuchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medical Sciences Kumamoto University Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoyuki","family":"Shimazu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto Saishunso National Hospital Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keishin","family":"Sugawara","sequence":"additional","affiliation":[{"name":"Chemo\u2010Sero\u2010Therapeutic Research Institute (KAKETSUKEN) Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumio","family":"Endo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medical Sciences Kumamoto University Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimitoshi","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medical Sciences Kumamoto University Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,9,29]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"3635","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Scriver C","year":"2000"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1993.tb03185.x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005313724361"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.1998.0172"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.05.001"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0133210"},{"key":"e_1_2_8_8_1","first-page":"810","article-title":"Gaucher disease: A G+1\u2192A+1IVS2 splice donor site mutation causing exon2 skipping in the acid \u03b2\u2010glucosidase mRNA","volume":"51","author":"He GS","year":"1992","journal-title":"Am. 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