{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T17:43:35Z","timestamp":1789667015422,"version":"4.0.1"},"reference-count":10,"publisher":"Georg Thieme Verlag KG","issue":"01","license":[{"start":{"date-parts":[[2024,2,23]],"date-time":"2024-02-23T00:00:00Z","timestamp":1708646400000},"content-version":"vor","delay-in-days":53,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Avicenna J Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The megakaryocyte and platelet inhibitory receptor gene G6P (MPIG6B) is located on chromosome 6p21.33. It encodes G6b-B; an inhibitory receptor expressed on the surface of platelets. It regulates platelets production, aggregation, and activation. We describe a case of a 31-year-old man who presented with a long history of thrombocytopenia, anemia, and hepatosplenomegaly. The patient received multiple blood transfusions and his clinical course was stable. A bone marrow biopsy showed morphologic features similar to primary myelofibrosis. Whole exome sequencing study was performed and revealed homozygous pathogenic mutation in exon 2 of MPIG6B gene (c.324C\u2009&gt;\u2009A, p.Cys108Ter) that is the second reported case in literature. In this report, we describe the main clinical and pathologic features of this disease and review the literature of previously documented cases.<\/jats:p>","DOI":"10.1055\/s-0044-1779697","type":"journal-article","created":{"date-parts":[[2024,2,24]],"date-time":"2024-02-24T00:07:38Z","timestamp":1708733258000},"page":"069-072","source":"Crossref","is-referenced-by-count":4,"title":["MPIG6B Gene-Related Myelofibrosis: A Rare Inherited Disease That Is Frequently Described in Arab Population"],"prefix":"10.1055","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-8665-2670","authenticated-orcid":false,"given":"Leen Jihad","family":"Attar","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Jordan, Amman, Jordan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Almothana","family":"Alelaimat","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Jordan, Amman, Jordan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alaa","family":"Alshorman","sequence":"additional","affiliation":[{"name":"Department of Hematology, Ministry of Health, Amman, Jordan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tariq N.","family":"Aladily","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Jordan, Amman, Jordan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2024,2,23]]},"reference":[{"issue":"03","key":"ref1","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1111\/ejh.12819","article-title":"Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia","volume":"98","author":"M Melhem","year":"2017","journal-title":"Eur J Haematol"},{"issue":"04","key":"ref2","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1002\/jbmr.4245","article-title":"Severity of megakaryocyte-driven 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mice","volume":"132","author":"I Hofmann","year":"2018","journal-title":"Blood"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"143957","DOI":"10.1016\/j.gene.2019.143957","article-title":"Case report of a novel MPIG6B gene mutation in a Chinese boy with pancytopenia and splenomegaly","volume":"715","author":"H Chen","year":"2019","journal-title":"Gene"},{"issue":"05","key":"ref7","doi-asserted-by":"crossref","first-page":"e316","DOI":"10.1111\/bjh.16897","article-title":"Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients","volume":"190","author":"A N Saliba","year":"2020","journal-title":"Br J Haematol"},{"issue":"08","key":"ref8","doi-asserted-by":"crossref","first-page":"e29062","DOI":"10.1002\/pbc.29062","article-title":"Detrimental variants in MPIG6B in two children with myelofibrosis: does immune dysregulation contribute to myelofibrosis?","volume":"68","author":"H Batis","year":"2021","journal-title":"Pediatr Blood Cancer"},{"issue":"04","key":"ref9","doi-asserted-by":"crossref","first-page":"268","DOI":"10.4274\/tjh.galenos.2022.2022.0210","article-title":"Rare MPIG6B gene mutation in an Indian male with anemia and thrombocytopenia","volume":"39","author":"A A Khan","year":"2022","journal-title":"Turk J Haematol"},{"issue":"04","key":"ref10","first-page":"103355","article-title":"A novel MPIG6B gene mutation in an adolescent girl with congenital thrombocytopenia and myelofibrosis","volume":"70","author":"Z Wang","year":"2022","journal-title":"Curr Res Transl Med"}],"container-title":["Avicenna Journal of 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