Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

Date publication

mars 2016

Journal

Orphanet journal of rare diseases

Auteurs

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/27004399

Résumé

Deficient nucleotide excision repair (NER) activity causes a variety of autosomal recessive diseases including xeroderma pigmentosum (XP) a disorder which pre-disposes to skin cancer, and the severe multisystem condition known as Cockayne syndrome (CS). In view of the clinical overlap between NER-related disorders, as well as the existence of multiple phenotypes and the numerous genes involved, we developed a new diagnostic approach based on the enrichment of 16 NER-related genes by multiplex amplification coupled with next-generation sequencing (NGS).

Mots clés

Cockayne Syndrome, genetics, DNA Helicases, genetics, DNA Repair, genetics, DNA Repair Enzymes, genetics, DNA-Binding Proteins, genetics, DNA-Directed DNA Polymerase, genetics, Endonucleases, genetics, High-Throughput Nucleotide Sequencing, methods, Humans, Mutation, Nuclear Proteins, genetics, Phenotype, Transcription Factors, genetics, Xeroderma Pigmentosum Group D Protein, genetics

Référence

Orphanet J Rare Dis. 2016 Mar;11:26