{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T10:19:48Z","timestamp":1781086788123,"version":"3.54.1"},"reference-count":34,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T00:00:00Z","timestamp":1768953600000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Bernard\u2010Soulier syndrome (BSS) is a rare bleeding disorder caused by defects in the GPIb\u2010IX\u2010V complex, which is essential for platelet adhesion. We report a novel case of BSS in a Mauritanian patient with a history of chronic bleeding since childhood, accompanied by thrombocytopenia and macroplatelets.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Diagnosis was confirmed by flow cytometry and molecular analysis. The variant identified in the\n                      <jats:italic>GP1BB gene<\/jats:italic>\n                      (\n                      <jats:italic>glycoprotein Ib platelet subunit beta<\/jats:italic>\n                      , HGNC:4440, OMIM:138720; 22q11.21). The variant identified was annotated according to HGVS nomenclature.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Genetic analysis identified a duplication of the GC dinucleotide in the\n                      <jats:italic>GP1BB<\/jats:italic>\n                      gene at genomic coordinates AF006988.1:g.13373_13374dupGC (transcript reference: NM_000407.4), resulting in a frameshift starting at amino acid residue 115 and generating a premature stop codon after 16 amino acids (p.Ala115Profs16). Flow cytometry demonstrated a significant reduction in GPIb and GPIX expression, explaining the platelet adhesion defect. Clinically, the patient's anemia worsened during adolescence with the onset of menstruation, requiring multiple transfusions that subsequently induced alloimmunization and transfusion incompatibility. Over an 18\u2009years follow\u2010up, the patient exhibited a persistent hemorrhagic syndrome and chronic iron\u2010deficiency anemia, exacerbated by limited access to phenotyped blood in Mauritania. The variant alters the hydrophobicity and stability of the GPIb\u03b2 protein, impairing membrane integration and disrupting assembly of the GPIb\u2010IX\u2010V complex.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case highlights the importance of molecular diagnosis and genetic counseling in at\u2010risk populations. In the absence of curative treatment, management relies on transfusions, antifibrinolytics, and avoidance of antiplatelet agents.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70186","type":"journal-article","created":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T04:04:53Z","timestamp":1769054693000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Bernard\u2010Soulier Syndrome: Identification of a Novel\n                    <i>GP1BB<\/i>\n                    Variant in a Mauritanian Patient"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7650-7575","authenticated-orcid":false,"given":"Mohamed Lemine","family":"Salem","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Pharmacy and Odontostomatology University of Nouakchott  Nouakchott Mauritania"},{"name":"Nouakchott National Hospital Laboratory  Nouakchott Mauritania"},{"name":"Medilab Medical Analysis Laboratory  Nouakchott Mauritania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ektelbenina","family":"Zein","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Pharmacy and Odontostomatology University of Nouakchott  Nouakchott Mauritania"},{"name":"National Oncology Center  Nouakchott Mauritania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghaber Sidi","family":"Mohamed","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Pharmacy and Odontostomatology University of Nouakchott  Nouakchott Mauritania"},{"name":"Nouakchott National Hospital Laboratory  Nouakchott Mauritania"},{"name":"Maurilab Medical Analysis Laboratory  Nouakchott Mauritania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,21]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/09537100701191323"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001405"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100037\u20101615854"},{"issue":"4","key":"e_1_2_13_5_1","first-page":"574","article-title":"Bernard\u2010Soulier Syndrome: Clinical and Laboratory Features of 65 Cases","volume":"93","author":"Balduini C. 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