{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,12]],"date-time":"2026-07-12T09:56:42Z","timestamp":1783850202922,"version":"3.55.0"},"reference-count":59,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2022,6,10]],"date-time":"2022-06-10T00:00:00Z","timestamp":1654819200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,11,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Solute carrier family 19 member 2 (SLC19A2, OMIM *603941) encodes thiamine human transporter 1 (THTR-1), which contributes to bringing thiamine (vitamin B1) into cells. Mutations in SLC19A2 lead to a rare recessive genetic disorder termed thiamine-responsive megaloblastic anemia (TRMA) syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>An Iranian family with TRMA was investigated by whole-exome sequencing (WES) to determine the genetic cause(s) of the disease. Accordingly, SLC19A2 genetic variants were gathered through literature analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>WES recognized a known pathogenic variant, c.697C\u2005&amp;gt;\u2005T (p. Q233X), within exon 2 of SLC19A2 (NM_006996). Subsequently, the proband\u2019s parents and sister were confirmed as heterozygous carriers of the identified variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The diagnostic utility and affordability of WES were confirmed as the first approach for the genetic testing of TRMA to verify the diagnosis. This analysis can be used to guide future prenatal diagnoses and determine the consequences in the other family members.<\/jats:p><\/jats:sec>","DOI":"10.1093\/labmed\/lmac040","type":"journal-article","created":{"date-parts":[[2022,3,25]],"date-time":"2022-03-25T04:16:51Z","timestamp":1648181811000},"page":"640-650","source":"Crossref","is-referenced-by-count":5,"title":["Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the<i>SLC19A2<\/i>Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia"],"prefix":"10.1093","volume":"53","author":[{"given":"Neda","family":"Mohsen-Pour","sequence":"first","affiliation":[{"name":"Zanjan Pharmaceutical Biotechnology Research Center, Zanjan University of Medical Sciences , Zanjan , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niloofar","family":"Naderi","sequence":"additional","affiliation":[{"name":"Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences , Tehran , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serwa","family":"Ghasemi","sequence":"additional","affiliation":[{"name":"Department of Biology, Science and Research Branch, Islamic Azad University , Tehran , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahshid","family":"Hesami","sequence":"additional","affiliation":[{"name":"Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences , Tehran , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Maleki","sequence":"additional","affiliation":[{"name":"Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences , Tehran , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3499-044X","authenticated-orcid":false,"given":"Samira","family":"Kalayinia","sequence":"additional","affiliation":[{"name":"Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences , Tehran , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,6,10]]},"reference":[{"issue":"4","key":"2022110311282980600_CIT0001","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1016\/S0022-3476(69)80031-4","article-title":"Thiamine-responsive megaloblastic anemia","volume":"74","author":"Rogers","year":"1969","journal-title":"J Pediatr."},{"issue":"1","key":"2022110311282980600_CIT0002","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1002\/1098-1004(200007)16:1<37::AID-HUMU7>3.0.CO;2-9","article-title":"The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families","volume":"16","author":"Raz","year":"2000","journal-title":"Hum Mutat."},{"issue":"1","key":"2022110311282980600_CIT0003","doi-asserted-by":"crossref","first-page":"136","DOI":"10.4103\/aian.AIAN_166_19","article-title":"Stroke as an initial manifestation of thiamine-responsive megaloblastic anemia","volume":"23","author":"Madaan","year":"2020","journal-title":"Ann Indian Acad Neurol."},{"issue":"3","key":"2022110311282980600_CIT0004","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1038\/10372","article-title":"Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness","volume":"22","author":"Labay","year":"1999","journal-title":"Nat Genet."},{"issue":"1","key":"2022110311282980600_CIT0005","doi-asserted-by":"crossref","first-page":"G197","DOI":"10.1152\/ajpgi.00092.2009","article-title":"Pancreatic beta cells and islets take up thiamin by a regulated carrier-mediated process: studies using mice and human pancreatic preparations","volume":"297","author":"Mee","year":"2009","journal-title":"Am J Physiol-Gastrointest Liver Physiol"},{"issue":"2","key":"2022110311282980600_CIT0006","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1208\/s12248-021-00562-4","article-title":"The effects of genetic mutations and drugs on the activity of the thiamine transporter, SLC19A2","volume":"23","author":"Enogieru","year":"2021","journal-title":"AAPS J"},{"issue":"3","key":"2022110311282980600_CIT0007","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1038\/10385","article-title":"Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome","volume":"22","author":"Diaz","year":"1999","journal-title":"Nat Genet."},{"key":"2022110311282980600_CIT0008","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.cca.2015.11.002","article-title":"Novel nonsense mutation (p. 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