in cystic fibrosis are categorized as Class I mutations, which are the most difficult to treat, as they result in little or no production of the cystic fibrosis transmembrane conductance regulator (CFTR) protein.
Although Translarna (ataluren) is developed to correct the genetic defects, significant unmet needs remain in the market, as the treatment is applicable to only 10-15% of all DMD cases caused by nonsense mutations
This 1% "exome" is by far the most informative portion of the genome, with changes in every base pair being immediately analyzable in silico as silent, misense, or nonsense mutations
(along with insertions, deletions, translocations, and other defect classes).
191 While nonsense mutations
cause about 10% of DMD, theoretically over 80% of patients could be treated with antisense oligonucleotides.
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations
A study that included 262 patients from 227 families (including Turkish cases) reported nonsense mutations
950 G>T at exon 9 and 1124 C>T at exon 10, missense mutations 138 T>A at exon 1,290 C>T at exon 2, 1115C>A at exon 10, and 1542G > C at exon 12, as well as 1 splice mutation at exon 10 in the WASP gene of Turkish patients other than the mutation in the presented cases (8).
11) Unlike mutations in other tumor suppressor genes, which are most often characterized by nonsense mutations
that result in a truncated or null protein, most TP53 mutations are missense mutations that result in amino acid substitutions.
80) Nonsense mutations
PAH-DNA adducts Nondetectable 1/293 1.
Missense and nonsense mutations
in codon 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds.
Although over 300 different mutations have been identified as the cause of thalassemia, (2) nearly all of the mutations can be classified into one of five categories: deletions, promoter mutations, nonsense mutations
, stop codon mutations, and splice site mutations .
in other genes often cause severe illnesses, but the two CF patients (aged 11 and 22) remain remarkably healthy with only very mild pulmonary disease.
in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families.