<i>GNE</i> -related severe congenital macro-thrombocytopenia in pregnancy

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 <i>GNE</i> gene mutation. <i>GNE</i> gene encodes the key enzyme in sialic acid biosynthesis, glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (<i>GNE</i>/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.