{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:22:37Z","timestamp":1747146157270,"version":"3.40.5"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,12,27]],"date-time":"2019-12-27T00:00:00Z","timestamp":1577404800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007786","name":"National Center for Child Health and Development","doi-asserted-by":"publisher","award":["NCCHD 26\u201013"],"award-info":[{"award-number":["NCCHD 26\u201013"]}],"id":[{"id":"10.13039\/100007786","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present two unrelated Japanese pedigrees with achondrogenesis type 1b (ACG1B), characterized by prenatally lethal fetal hydrops and severe micromelia. The affected members in these pedigrees carried a common homozygous missense point mutation in solute carrier family 26 member 2 (<jats:italic>SLC26A2<\/jats:italic>), a gene associated with ACG1B (NM_000112:c.1987G&gt;A). This loss\u2010of\u2010function point mutation causes substitution of glycine 663 with arginine in a highly conserved loop domain of SLC26A2. Interestingly, only a few cases of this mutation have been registered in Japanese genomic databases, and there are no reports of this mutation in any major genomic databases outside Japan. Furthermore, we confirmed the presence of a homozygous stretch of approximately 75\u2009kb surrounding the pathogenic variant. Our findings suggest that this missense point mutation in <jats:italic>SLC26A2<\/jats:italic>, which is likely the cause of the ACG1B phenotypes in these unrelated fetuses, is distributed exclusively in Japan.<\/jats:p>","DOI":"10.1002\/ajmg.a.61469","type":"journal-article","created":{"date-parts":[[2019,12,27]],"date-time":"2019-12-27T13:12:48Z","timestamp":1577452368000},"page":"735-739","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan\u2010specific pathogenic variant in <i>SLC26A2<\/i>"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6609-9179","authenticated-orcid":false,"given":"Taisuke","family":"Sato","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology The Jikei University School of Medicine  Tokyo Japan"},{"name":"Department of Clinical Genetics The Jikei University Hospital  Tokyo Japan"},{"name":"Department of Maternal\u2010Fetal Biology National Center for Child Health and Development  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Kojima","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Hokkaido University  Sapporo Hokkaido Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7249-1537","authenticated-orcid":false,"given":"Osamu","family":"Samura","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The Jikei University School of Medicine  Tokyo Japan"},{"name":"Department of Clinical Genetics The Jikei University Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Kawaguchi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Hokkaido University  Sapporo Hokkaido Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akie","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hokkaido University  Sapporo Hokkaido Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiro","family":"Nakajima","sequence":"additional","affiliation":[{"name":"Laboratory for Bone and Joint Diseases RIKEN Center for Integrative Medical Sciences  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akiko","family":"Tanuma\u2010Takahashi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The Jikei University School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhiko","family":"Nakabayashi","sequence":"additional","affiliation":[{"name":"Department of Maternal\u2010Fetal Biology National Center for Child Health and Development  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7809-7637","authenticated-orcid":false,"given":"Kenichiro","family":"Hata","sequence":"additional","affiliation":[{"name":"Department of Maternal\u2010Fetal Biology National Center for Child Health and Development  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiro","family":"Ikegawa","sequence":"additional","affiliation":[{"name":"Laboratory for Bone and Joint Diseases RIKEN Center for Integrative Medical Sciences  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Center for Intractable Diseases Saitama Medical University Hospital  Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aikou","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The Jikei University School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahiro","family":"Yamada","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Hokkaido University  Sapporo Hokkaido Japan"},{"name":"Clinical Genetics Unit Kyoto University Hospital  Kyoto Sakyo\u2010ku Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,12,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00406.x"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90281-X"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1148\/92.2.285"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31225"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41439-018-0004-z"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks539"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1358-4"},{"key":"e_1_2_9_11_1","first-page":"1137","article-title":"A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB","volume":"55","author":"Superti\u2010Furga A.","year":"1994","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0196-100"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61469","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61469","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61469","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61469","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T05:04:15Z","timestamp":1694063055000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61469"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,27]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["10.1002\/ajmg.a.61469"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61469","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2019,12,27]]},"assertion":[{"value":"2019-09-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}