As shown in Table 3, ten types of mutations were detected by HRM analysis and then confirmed by direct sequencing (nonsense, 1; missense, 7; silent, 2).
Using whole-exome sequencing, nonsense and frameshift mutations in the MLL2 gene were first identified as a cause of the Kabuki syndrome in 74% of these patients.
Base-dropping/insertion cause frame-shift errors, rendering sections of translated sequence as nonsense.
In total, two substitutions result in the introduction of a stop codon in a coding sequence (the nonsense mutation and one of the deletions).
More than 200 mutations have been described within the SPG4 coding sequence, including nonsense, frameshift, splice site and missense mutations as well as large-scale deletions (Hazan et al., 1999; Fonknechten et al., 2000; Depienne et al., 2007).
Sequences without nonsense stop codons are found mainly in protostomia.
NoSC* indicates the number of sequences without nonsense codons.
Sanger sequencing revealed nonsense mutations in E01A2.4 for three of the alleles: h137, h844, and h888.
The animals were first exposed to sequences of nonsense words generated by the AG.
After performing exome sequencing, a nonsense mutation in the SURF1 gene was found segregating with the disease; therefore, the diagnosis was revised to be Leigh syndrome [ 4].
