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Ann Hematol (2015) 94:14091410 DOI 10.1007/s00277-015-2373-4
LETTER TO THE EDITOR
Sense, missense, and nonsense: a novel mechanism of premature termination codon (PTC) mutation in a severe von Willebrand disease (VWD) patient
Priyanka Kasatkar1 & Bipin Kulkarni1 & Kanjaksha Ghosh1 & Shrimati Shetty1
Received: 15 December 2014 /Accepted: 30 March 2015 /Published online: 15 April 2015 # Springer-Verlag Berlin Heidelberg 2015
Dear Editor,
The human von Willebrand factor gene (VWF) is located on the short arm of chromosome 12 and spans approximately 178 kb, comprising of 52 exons. The mRNA has a length of 8.7 kb coding for precursor protein of 2813 amino acids that includes a 22 amino acid signal peptide, a pro-peptide of 741 amino acids and a mature subunit of 2050 amino acids [1]. The gene is highly polymorphic with more than 2000 polymorphisms reported in different ethnic populations [2]. Single nucleotide variations (SNVs) contribute to normal phenotypic variations and diseases as well. A chance combination of two SNVs in a single codon changing the nature of the mutation though uncommon, yet higher prevalence of the variant alleles across populations, makes such a deleterious combination possible resulting in the disease phenotype.
We report here a severe...