Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family.

摘要

We previously described a patient homozygous for the mutation c.1868 G -> C in the last nucleotide of exon 15 in TMPRSS6 (1), and we proposed that splicing of TMPRSS6 between exon 15 and exon 16 was disrupted, leading to iron refractory iron deficiency anaemia (IRIDA). We used computer splice prediction analysis of the region around the IVS-15 donor site with the program Spliceview (2), and we obtained, in the normal sequence, the score 93 for the physiological donor splice site, while in the presence of the c.1868 G -> C mutation, this score drops to 85.