Asymptomatic Bernard-Soulier Syndrome With a Novel Mutation

Mahmoud Galal Ahmed, Muzammil Hafeez, Anwar Khan, Mustafa El Bolkini, Niyas Parammal Ambadi, Asim Noor Rana

Abstract


Bernard-Soulier syndrome (BSS) is inherited as an autosomal recessive genetic disorder. It is characterized with thrombocytopenia and giant platelets; and various degrees of BSS can be caused by a number of homozygous or compound heterozygous mutations of genes coding for components of the platelet receptor GPIbIX. Here we present a novel mutation occurring in a family causing BSS without any symptoms.




Int J Clin Pediatr. 2020;9(1):16-19
doi: https://doi.org/10.14740/ijcp342

Keywords


Bernard-Soulier syndrome; Novel mutation; GP1BB gene; Asymptomatic

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