Likewise, the present study also identified similar results as in previous studies in 3 MFS pedigrees with
frameshift mutations, thereby contributing to the extension of the known mutational spectrum of frame-shift, for understanding the genotype-phenotype correlations in cardiovascular involvement.
We identified six single nucleotide polymorphisms (SNPs) that have already been reported for FBN3 and five novel mutations including two
frameshift mutations (c.3648delC and c.3686insC) and three missense mutations (p.454T greater than P, p.1642G greater than P and p.1876G greater than C).
In a recent study from Turkey, Simsek et al (18) reported that two heterozygous
frameshift mutations were identified in the MKRN3 gene in two probands with familial iCPP and in seven patients with iCPP, as well as 11 unaffected family members.
Twenty-six of the detected mutations were missense, 5 were splice defects, 6 were nonsense, and 3 were
frameshift mutations (Table 1).
The double-strand break produces indels (insertions and deletions), which then produce
frameshift mutations. Exon 9 of the Myh14 gene is the CRISPR-amenable target, as shown in Figure 1(a).
The pedigree and mutations of the NPHS1 gene were identified in the family of patient 1, including a heterozygous variant p.Glu117Lys, a mutation p.Asp310Asn, and a heterozygous
frameshift mutation p.Val1084Glyfs*12.
A form of albinism in cattle is caused by a tyrosinase
frameshift mutation. Mamm.
Two siblings from a French family with NS-ARMR have been reported to have a homozygous
frameshift mutation due to 1bp insertion in exon 6, c.787_788insC.12 In a large consanguineous Iranian kindred with seven individuals having NS-ARMR found to have a homozygous 120-150kb deletion in exon 1 of TUSC3 gene.13 Deletion of almost the entire TUSC3 gene (minus the promoter and exon 1) and its downstream region have been described in a large consanguineous Pakistani family with six individuals with NS-ARMR.14
Andersson, "A
frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pigs," Genetics, vol.
The new HFE mutant was a
frameshift mutation, c.794dupA, in HFE exon 4 of patient HG3572 and was in trans of the Cys282Tyr mutant (see Fig.
This strain type contains the genes for binary toxin and has an 18-bp deletion and a
frameshift mutation in tcdC hypothesized to result in deregulated expression of toxins A and B.
After the first report of a
frameshift mutation in LEP in two severely obese cousins from a consanguineous United Kingdom family of Pakistani origin (4), several other patients with frameshift, missense or deletion mutations in LEP have been reported (5,6,7,8, 9,10,11,12,13,14,15,16,17).
