Referenced in: none

Automatically associated channels: Cav1.4

Title: Establishment and rapid detection of a heterozygous missense mutation in the CACNA1F gene by ARMS technique with double-base mismatched primers.

Authors: W C Yang, L Zhu, B X Zhou, S Tania, Q Zhou, M A Khan, X L Fu, J L Cheng, H B Lv, J J Fu

Journal, date & volume: Genet. Mol. Res., 2015 , 14, 11480-7

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/26436388

Abstract
Retinitis pigmentosa (RP) is a retinal degenerative disorder that often causes complete blindness. Mutations of more than 50 genes have been identified as associated with RP, including the CACNA1F gene. In a recent study, by employing next-generation sequencing, we identified a novel mutation in the CACNA1F gene. In this study, we used the amplification refractory mutation system (ARMS) and identified a single nucleotide change c.1555C>T in exon 13 of the CACNA1F gene, leading to the substitution of arginine by tryptophan (p.R519W) in a Chinese individual affected by RP. This study actually confirms this novel mutation, and establishes the ARMS technique for the detection of mutations in RP.