High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island

• Authors: M Fiore, CHU de Bordeaux; C De Thoré, CHU de Bordeaux; H Randrianaivo-Ranjatoelina, Groupe Hospitalier Sud, Saint-Pierre; M-J Baas, Université de Strasbourg; M-L Jacquemont, Groupe Hospitalier Sud, Saint-Pierre; M Dreyfus, Université Paris-Sud Paris-Saclay; C Lavenu-Bombled, Université Paris-Sud Paris-Saclay; Renhao Li, Emory University; C Gachet, Université de Strasbourg; A Dupuis, Université de Strasbourg; F Lanza, Université de Strasbourg
• Journal Title: BRITISH JOURNAL OF HAEMATOLOGY
• Volume: Volume 189, Number 3
• Publisher: WILEY | 2020-01-30, Pages E67-E71
• Type of Work: Article | Post-print: After Peer Review
• Publisher DOI: http://doi.org/10.1111/bjh.16479
• Subjects: Health Sciences, Pathology; Health Sciences, Medicine and Surgery
• Keywords: Science & Technology; Life Sciences & Biomedicine; Hematology; Bernard-Soulier syndrome; Reunion Island; platelet GPIb beta; Leucin-rich repeat domain; GP1BB; GPIB-BETA

Abstract

Congenital defects in the platelet GPIb-IX-V complex which result in quantitative deficiencies cause the Bernard-Soulier syndrome (BSS) bleeding disorder (Nurden and Nurden 2011). BSS is an autosomal recessive disease characterized by moderate to severe thrombocytopenia, giant platelets and mucocutaneous bleeding (Lanza 2006). Mutations in any one of the three genes GP1BA, GP1BB or GP9 may lead to impaired expression of the GPIb-IX-V complex. The prevalence of BSS has been estimated at less than one in a million live births, but higher frequencies have been observed in particular regions.