Multiple mutations in GP Ib[alpha], GP Ib[beta], or GP IX leading to clinical expression of BSS are found including missense, nonsense mutations
and frame shift insertions or deletions resulting in defect in expression of the GP Ib-IX-V complex on platelets.4,5 BSS cases with isolated GPV gene mutation have not been reported in literature.6
Novel homozygous nonsense mutations
in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea.
We identified a homozygous nonsense mutation
c.923C>A (p.S308X) and a homozygous variable-site mutation c.1408G>A (p.V470M) (NCBI: SNP rs213950) in our infant patient.
Up to 70% of human genetic disease is caused by nonsense mutations
. For inherited eye disease, these mutations are thought to contribute to 30-40% of cases; this is certainly true of choroideremia, an X-linked progressive chorioretinal atrophy caused by mutations in the CHM gene (see Figure 2), and aniridia caused by mutations in the PAX6 gene.
X-linked AHC is caused by deletions or mutations in DAX-1 gene (AHC; MIM: 300200), (9) the majority of these mutations are frameshift or nonsense mutations
leading to truncated DAX-1 protein.
The N-terminal frameshift or nonsense mutations
cause the truncation of the wild-type 42-kDa protein, leading to a mutated 30-kDa isoform that lacks the first transactivation domain (TAD1).
The second subset, truncating mutations, includes nonsense mutations
, out-of-frame insertions or deletions, initiation codon mutations and deletion of the entire gene.
Here, we report a previously reported homozygous nonsense mutation
c.4802C>G in the ASPM gene (rs199422189) in two Pakistani families and provide clinical signs of patients with an ASPM mutation.
It is also demonstrated that codon 176TGC>TTC, 236TAC>AAC and 245GGC>GCC found mutated in dog mammary tumor cell lines which is also in conformity to human codons(Van Leeuwen et al., 1996).Another study was conducted on sixty three benign and malignant mammary carcinoma on dog's Tp53 gene, in which four missense mutations were observed in 38 benign cases, five missense mutation in 25 mammary carcinomas and one nonsense mutation
was found in 25 mammary carcinomas(Muto et al., 2000).
M2 PHARMA-October 8, 2018-PTC Therapeutics Presents Initial Data from Patient Registry Demonstrating Translarna Slows Disease Progression in Children with Duchenne Caused by a Nonsense Mutation
We report a novel nonsense mutation
in exon 4 of the GAA gene in an Iranian child suffering from PD and her good response to ERT.