{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,12]],"date-time":"2026-07-12T09:56:37Z","timestamp":1783850197541,"version":"3.55.0"},"reference-count":7,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T00:00:00Z","timestamp":1559088000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003009","name":"Science and Technology Development Fund","doi-asserted-by":"publisher","award":["5253"],"award-info":[{"award-number":["5253"]}],"id":[{"id":"10.13039\/501100003009","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The Solute Carrier Family 19 Member 2 (<jats:italic>SLC19A2<\/jats:italic>, OMIM *603941) encodes the thiamine transporter 1 (THTR\u20101) that brings thiamine (Vitamin B1) into cells. THTR\u20101 is the only thiamine transporter expressed in bone marrow, cochlear, and pancreatic beta cells. THTR\u20101 loss\u2010of\u2010function leads to the rare recessive genetic disease Thiamine\u2010Responsive Megaloblastic Anemia (TRMA, OMIM #249270).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In vitro stimulated blood lymphocytes were used for cytogenetics and the isolation of genomic DNA used to perform whole exome sequencing (WES). To validate identified mutations, direct Sanger sequencing was performed following PCR amplification.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 6\u2010year\u2010old male born from a consanguineous couple presenting bone marrow failure and microcephaly was referred to our clinic for disease diagnosis. The patient presented a normal karyotype and no chromosomal fragility in response to DNA damage. WES analysis led to the identification of a new pathogenic variant in the <jats:italic>SLC19A2<\/jats:italic> gene (c.596C&gt;G, pSer199Ter) allowing to identify the young boy as a TRMA patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our analysis extend the number of inactivating mutations in <jats:italic>SLC19A2<\/jats:italic> leading to TRMA that could guide future prenatal diagnosis for the family and follow\u2010up for patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.777","type":"journal-article","created":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T01:23:45Z","timestamp":1559179425000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Whole exome sequencing identifies a new mutation in the <i>SLC19A2<\/i> gene leading to thiamine\u2010responsive megaloblastic anemia in an Egyptian family"],"prefix":"10.1002","volume":"7","author":[{"given":"Khalda","family":"Amr","sequence":"first","affiliation":[{"name":"Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrycja","family":"Pawlikowska","sequence":"additional","affiliation":[{"name":"UMR8200\u2010CNRS, Gustave Roussy Villejuif Cedex France"},{"name":"Universit\u00e9 Paris\u2010Sud, Universit\u00e9 Paris\u2010Saclay Orsay France"},{"name":"Equipe labellis\u00e9e \"La Ligue Contre le Cancer\" Villejuif Cedex France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6547-2664","authenticated-orcid":false,"given":"Said","family":"Aoufouchi","sequence":"additional","affiliation":[{"name":"UMR8200\u2010CNRS, Gustave Roussy Villejuif Cedex France"},{"name":"Universit\u00e9 Paris\u2010Sud, Universit\u00e9 Paris\u2010Saclay Orsay France"},{"name":"Equipe labellis\u00e9e \"La Ligue Contre le Cancer\" Villejuif Cedex France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1080-5745","authenticated-orcid":false,"given":"Filippo","family":"Rosselli","sequence":"additional","affiliation":[{"name":"UMR8200\u2010CNRS, Gustave Roussy Villejuif Cedex France"},{"name":"Universit\u00e9 Paris\u2010Sud, Universit\u00e9 Paris\u2010Saclay Orsay France"},{"name":"Equipe labellis\u00e9e \"La Ligue Contre le Cancer\" Villejuif Cedex France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7739-1674","authenticated-orcid":false,"given":"Ghada","family":"El\u2010Kamah","sequence":"additional","affiliation":[{"name":"Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,5,29]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/10385"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/10379"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1590\/1678-4685-gmb-2016-0213"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-018-4554-x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/10372"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(69)80031-4"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-5448.2012.00855.x"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.777","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.777","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.777","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.777","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T05:02:02Z","timestamp":1694322122000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.777"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,29]]},"references-count":7,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2019,7]]}},"alternative-id":["10.1002\/mgg3.777"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.777","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5,29]]},"assertion":[{"value":"2019-03-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e00777"}}