The importance of mRNA structure in determining the pathogenicity of synonymous and non‐synonymous mutations in haemophilia

• DOI: 10.1111/hae.13107
• Publication Date: 2016-12-09T05:12:43Z
• Authors: N. Hamasaki‐Katagiri; B. C. Lin; J. Simon; R. C. Hunt; T. Schiller; E. Russek‐Cohen; A. A. Komar; H. Bar; C. Kimchi‐Sarfaty
• Keywords: Synonymous substitution; Silent mutation

Mutational analysis is commonly used to support the diagnosis and management of haemophilia. This has allowed for generation large mutation databases which provide unparalleled insight into genotype-phenotype relationships. Haemophilia associated with inversions, deletions, insertions, nonsense missense mutations. Both synonymous non-synonymous mutations influence base pairing messenger RNA (mRNA), can alter mRNA structure, cellular half-life ribosome processivity/elongation. However, role structure in determining pathogenicity point haemophilia not been evaluated.