In this study, we identified a homozygous nonsense mutation
p.S1601* located in exon 22 that encodes for the calmodulin-binding IQ domains that serves as binding site for EF-hand proteins like calmodulin and PKC phosphorylation site (Baudier et al., 1991).
Translarna (ataluren), discovered and developed by PTC Therapeutics, Inc., is a protein restoration therapy designed to enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation
However, in branch B of the family, the two cousins were heterozygous for this large rearrangement and carry a heterozygous nonsense mutation
In this study, a novel nonsense mutation
(p.K420X) was noticed in MYO7A in the J03 family, which may induce hearing loss by changing the protein structures.
Of the nonsense mutation
, c.559G>T; p.G187X in the exon 5 of the SLC26A3 gene was detected.
Beta-thalassernia due to a novel nonsense mutation
at codon 37 (TGG[right arrow]TAG) found in an Afghanistani family.
Homozygous nonsense mutation
in the FOXE3 gene as a cause of congenital primary aphakia in humans.
After sequencing all the 18 exons, including the intron-exon boundaries and the promoter, four LDLR mutations were detected in heterozygosis: one nonsense mutation
(p.C146X) in exon 4 and three missense mutations, one in exon 3 (p.R57H) and two in exon 17 (p.V806F and p.W789L).
Genotyping of the FUT2 G428A nonsense mutation
confirmed secretor-negative genotype of all [Le.sup.a+b-] persons and the secretor-positive genotype of [Le.sup.a-b+] persons.
Investigators are also investigating nonsense suppression, a strategy that attempts to stabilize the ribosome to "read through'" the nonsense mutation
that causes premature termination of the translation of the dystrophin gene in up to 15% of patients with DMD, as well as a subset of other MD patients.
Alstrom syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation
of the ALMS1 gene.
Novel nonsense mutation
causes analbuminemia in a Moroccan family.