Abstract
Purpose :
Retinitis pigmentosa (RP) is a group of inherited retinal diseases that causes severe progressive visual impairment. The purpose of this paper was to apply targeted next-generation sequencing (NGS) to identify causative mutations of RP in a Chinese RP family.
Methods :
Blood samples were collected from a 30-year-old female Chinese proband diagnosed with RP and her family members. A total of 163 genes that have been found to be involved in inherited retinal diseases were selected for NGS. Rigorous NGS data analysis, Sanger sequencing validation and segregation analysis were applied to evaluate identified pathogenic mutations.
Results :
Sequence analysis revealed that the proband and her affected sister both carried a novel homozygous frameshift mutation in MERTK (p.I103Nfs*4). Other family members carrying a heterozygous mutation were unaffected. This mutation was found to cosegregate with the disease phenotype in this family. In addition, this mutation was not found in 1,000 control samples.
Conclusions :
The targeted NGS strategy is an efficient tool for RP pathogenic gene detection. This study identified a new autosomal recessive mutation in the RP-related gene MERTK, which expanded the spectrum of RP disease-causing mutations.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.