References in periodicals archive

A class of small molecule drugs, in particular one named ataluren (also known as Translarna), can bind to the protein-making machinery within the cell (the ribosome) and weaken its ability to detect abnormal stop signals resulting from nonsense mutations. The ribosome is involved in translation of a protein by reading the transcribed instruction part of the gene (also known as the messenger RNA, mRNA or transcript) and detecting the sequence of three letter codes (codon) to join amino acids together to form a protein.

Genomic medicine for inherited eye disease: This article provides a guide to the basics of genetic eye disease and how we are moving to the era of genomic medicine in ophthalmology

A variety of RUNX1 mutations have been described, including frameshift or nonsense mutations or deletion throughout the gene as well as missense point mutations clustering within the highly conserved RUNT homology domain (RHD) and transactivation domain (TAD).

Myeloid Neoplasm With Germline Predisposition: A 2016 Update for Pathologists

We have identified via WES a previously reported nonsense mutation c.4802C>G located in exon 22 of the ASPM gene transcript 1 (NM_018136) in both families.

Homozygous Nonsense Mutation in the ASPM Gene Causes MCPH in Consanguineous Pakistani Families

(NASDAQ: PTCT) has received preliminary data from the first international drug registry for Duchenne patients receiving Translarna (ataluren), underscoring the long-term clinical benefit of Translarna when used in routine clinical practice in delaying irreversible muscle loss in children with Duchenne caused by a nonsense mutation, when compared with published natural history, the company said.

PTC Therapeutics Presents Initial Data from Patient Registry Demonstrating Translarna Slows Disease Progression in Children with Duchenne Caused by a Nonsense Mutation

To the best of our knowledge, this mutation is a novel, previously undetected, pathogenic nonsense mutation, associated with severe, classical IOPD with a good response to ERT (Database: www.pompecenter.nl).

A New Mutation Causing Severe InfantileOnset Pompe Disease Responsive to Enzyme Replacement Therapy

WES revealed a previously identified nonsense mutation c.[2041C>T]; p.[R681*] found in exon 14, but in heterozygous form in the proband, which did not segregate with the phenotype in the family.

Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations

The 28 novel mutations included 22 missense mutations, 3 small insertions, 1 splicing mutation, 1 small deletion, and 1 nonsense mutation. Among these novel mutations, the mutation c.1130_1132delTCT caused a three base pair deletion in ARSA, while the mutation c.954G>A, pTrp318Term produced a premature termination code, the mutations c.1344_1345insCC, c.302_303insG, and c.1428_1429insC caused one or two base pair insertion in ARSA, and the mutations c.1108-20A>G, c.465G>A (p.Lys125ProfsX17), and IVS3+2T>C led to splicing and amino acid changes in the protein.

Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy

Whole exome sequencing revealed a nonsense mutation in exon 7 of the DTNA gene (C601T).

Successful Treatment of an Infant with Left Ventricular Noncompaction Presenting with Fatal Ventricular Arrhythmia Treated with Cardiac Resynchronization Therapy and an Implantable Cardioverter Defibrillator

A nonsense mutation in Exon 1 (c.31C>T) changes an arginine (R) codon (CGA) into a translation termination (X) codon (TGA) at amino acid position 11 (p.ArgllTer).

An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation