{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T08:01:59Z","timestamp":1780646519475,"version":"3.54.1"},"reference-count":12,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2025,4,16]],"date-time":"2025-04-16T00:00:00Z","timestamp":1744761600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Obstet Med"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:p>\n                    Congenital thrombocytopenia results from mutations in genes implicated in megakaryocyte differentiation and\/or platelet formation and clearance. We report the case of a 25 year old primigravida who presented with severe macro-thrombocytopenia from the age of 12 years. She delivered an alive female baby at 35 weeks of gestation. She was diagnosed to have\n                    <jats:italic toggle=\"yes\">GNE<\/jats:italic>\n                    gene mutation.\n                    <jats:italic toggle=\"yes\">GNE<\/jats:italic>\n                    gene encodes the key enzyme in sialic acid biosynthesis, glucosamine (UDP-N-acetyl)-2-epimerase\/N-acetylmannosamine kinase (\n                    <jats:italic toggle=\"yes\">GNE<\/jats:italic>\n                    \/MNK). The mutation is responsible for the reduction in sialic acid biosynthesis and consequently leads to severe congenital thrombocytopenia and\/or myopathy. Although no sign of myopathy was observed in this patient; it is possible myopathy can be developed later, thus long-term follow-up with neurology is highly advisable. We recommend the genetic counselling and a segregation analysis of this variant in other affected individuals in the family.\n                  <\/jats:p>","DOI":"10.1177\/1753495x251334520","type":"journal-article","created":{"date-parts":[[2025,4,16]],"date-time":"2025-04-16T16:09:54Z","timestamp":1744819794000},"page":"144-146","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["<i>GNE<\/i>\n                    -related severe congenital macro-thrombocytopenia in pregnancy"],"prefix":"10.1177","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5500-6109","authenticated-orcid":false,"given":"Sivaranjani","family":"P","sequence":"first","affiliation":[{"name":"Jawaharlal Institute of Postgraduate Medical Education and Research"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5475-7856","authenticated-orcid":false,"given":"Bhabani","family":"Pegu","sequence":"additional","affiliation":[{"name":"Jawaharlal Institute of Postgraduate Medical Education and Research"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murali","family":"Subbaiah","sequence":"additional","affiliation":[{"name":"Jawaharlal Institute of Postgraduate Medical Education and Research"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pooja","family":"D","sequence":"additional","affiliation":[{"name":"Jawaharlal Institute of Postgraduate Medical Education and Research"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prabhu","family":"Manivannan","sequence":"additional","affiliation":[{"name":"Jawaharlal Institute of Postgraduate Medical Education and Research"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gowri","family":"Dorairajan","sequence":"additional","affiliation":[{"name":"Jawaharlal Institute of Postgraduate Medical Education and Research"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,4,16]]},"reference":[{"key":"e_1_3_2_2_2","first-page":"715","article-title":"Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26- and MYH9-related diseases","volume":"61","author":"Balduini A","year":"2018","unstructured":"Balduini A, Raslova H, DiBuduo CA, et al. Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26- and MYH9-related diseases. EurJMedGenet 2018; 61: 715\u2013722.","journal-title":"EurJMedGenet"},{"key":"e_1_3_2_3_2","first-page":"233","volume-title":"Inherited platelets disorders. A practical guide I pediatric hematology","author":"Alam MM","year":"2021","unstructured":"Alam MM, Al-Manea J. Inherited platelets disorders. A practical guide I pediatric hematology. Morrisville, USA: Lulu Press, 2021, pp. 233\u2013247."},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.3109\/09537104.2016.1148806"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-05-1742"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-09-600858"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-018-0671-y"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/128_2013_464"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13045-017-0476-1"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2018-04-845545"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2003.12.012"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/jth.14377"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.3389\/fcvm.2019.00080"}],"container-title":["Obstetric Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1753495X251334520","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1753495X251334520","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1753495X251334520","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T07:16:41Z","timestamp":1780643801000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1753495X251334520"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,16]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1177\/1753495X251334520"],"URL":"https:\/\/doi.org\/10.1177\/1753495x251334520","relation":{},"ISSN":["1753-495X","1753-4968"],"issn-type":[{"value":"1753-495X","type":"print"},{"value":"1753-4968","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,16]]}}}