Sentences with phrase «frameshift mutations in»

We describe heterozygous ACTB deletions and nonsense and frameshift mutations in 33 individuals with developmental delay, apparent intellectual disability, increased frequency of internal organ malformations (including those of the heart and the renal tract), growth retardation, and a recognizable facial gestalt (interrupted wavy eyebrows, dense eyelashes, wide nose, wide mouth, and a prominent chin) that is distinct from characteristics of individuals with BRWS.

The four unrelated patients in the Bainbridge study had de novo nonsense and frameshift mutations in ASXL3 (not ASXL1).

We imputed these variants into 104,220 individuals down to a minor allele frequency of 0.1 % and found a recessive frameshift mutation in MYL4 that causes early - onset atrial fibrillation, several mutations in ABCB4 that increase risk of liver diseases and an intronic variant in GNAS associating with increased thyroid - stimulating hormone levels when maternally inherited.

A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy.

Unlike the genetically distinct, relatively late onset XLPRA1 that is described below, the phenotype associated with the frameshift mutation in XLPRA2 is very severe and manifests during retinal development.

Not exact matches

Surprisingly, frameshift mutations occurred at a ratio of 0.90 in - frame per out - of - frame mutation as opposed to the expected frequency of 0.50 (1 in - frame per 2 out - of - frame mutations; Table S1).

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal - dominant Robinow syndrome.

Programmable nucleases, ZFN, TALEN and RGENs enable gene knockout in cultured cells and organisms by producing site - specific DNA double - strand breaks, whose repair via error - prone non-homologous end joining (NHEJ) or microhomology - mediated end joining (MMEJ) gives rise to frameshift mutations.

They identified 3 homozygous variants in ATP6V1B: a frameshift mutation (p.Ile386Hisfs * 56), a nucleotide substitution in exon 10 (p.Pro346Arg), and a new splicing mutation in intron 5 and, 2 variants in ATP6V0A4: a homozygous variant (p.Arg743Trp) and a known missense mutations (p.Asp411Tyr).

Resequencing of PRDM16 in a cohort of 75 non-syndromic individuals with LVNC detected 3 mutations, including 1 truncation mutant, 1 frameshift null mutation, and a single missense mutant.

LOF mutations were defined as nonsense, frameshift, and splice - site variants, along with missense variants resulting in < 25 % of wild - type ANGPTL3 activity in a mouse model.

Signs of ivermectin toxicosis can occur in any breed but are most common in ivermectin - sensitive breeds such as collies and other herding breeds.20, 21 Ivermectin sensitivity is derived from a frameshift deletion mutation of the multidrug resistance gene (MDR1; the most recent nomenclature is ABC ±), resulting in a severely truncated, nonfunctional protein product.

The mutation is a 44 bp insertion of a A29 tract flanked by a 15 bp duplication in exon 2 of the gene, that creates a frameshift and introduces a premature stop codon early in exon 3.

The mutation, which has also been identified in the Samoyed, is a five nucleotide deletion that causes a frameshift and an immediate premature stop; the truncated protein lacks 230C - terminal amino acids which causes a slight decrease in the isoelectric point [18].

The mutation is a G → A substitution at c. 1473 + 1, which destroys a splice donor recognition site in intron 10 and causes exon skipping that results in a frameshift and the introduction of a premature termination codon [129].

Recently a frameshift mutation was identified in C2orf71 that causes an autosomal recessive form of late onset PRA in the Gordon and Irish Setters [30].