Three patients (P6, P8 and P16) harboured somatic mosaicisms: a nonsense mutation, a 7bp duplication and a 20bp deletion which result in a truncating frameshift mutation
. One missense mutation was located in the DBD.
(4,8) The majority of the AML patients have 2 CEBPA mutations with both N-terminal frameshift mutation
and C-terminal inframe mutation on different alleles.
In 3 families diagnosed with MFS, we identified independent heterozygous frameshift mutations
of FBN1 (Figure 3(a)).
Patients with residual merosin and later presentation often carried missense, splice site mutation, and less frequently frameshift mutations
Around 90% of these mutations are missense, involving one normal amino acid being exchanged for another, but some less common cases involve frameshift mutations
, which lead to a profoundly different amino acid product .
Twenty-six of the detected mutations were missense, 5 were splice defects, 6 were nonsense, and 3 were frameshift mutations
Patients with DFNB12 usually carry CDH23 missense mutations in any domain, whereas individuals with USH1D usually have nonsense, splice-site, and frameshift mutations
The major types of mutations responsible for this are nonsense mutations or frameshift mutations
In our case, we found novel compound heterozygous frameshift mutations
from his parents.
Given the high likelihood of frameshift mutations
resulting in resistance and the high specificity (94%-98%) of pncA SNPs for pyrazinamide resistance (13,14), we estimate that at least 56%-66% of MDR TB and 90%-95% of XDR TB cases from these settings are likely to be resistant to pyrazinamide.
The most commons are the frameshift mutations
at codons 41/42 (-TCTT) and the nonsense mutation at codon 17 (A [right arrow] T).
No hotspots for these mutations have been identified, but frameshift mutations
and deletions have been reported on numerous occasions.