Identification of a Disease-Causing Mutation in a Chinese Patient with Retinitis Pigmentosa by Targeted Next-Generation Sequencing

Eur J Ophthalmol. 2017 Nov 8;27(6):791-796. doi: 10.5301/ejo.5000971.


Purpose: To identify disease-causing mutations in a Chinese patient with retinitis pigmentosa (RP).

Methods: A detailed clinical examination was performed on the proband. Targeted next-generation sequencing (NGS) combined with bioinformatics analysis was performed on the proband to detect candidate disease-causing mutations. Sanger sequencing was performed on all subjects to confirm the candidate mutations and assess cosegregation within the family.

Results: Clinical examinations of the proband showed typical characteristics of RP. Three candidate heterozygous mutations in 3 genes associated with RP were detected in the proband by targeted NGS. The 3 mutations were confirmed by Sanger sequencing and the deletion (c.357_358delAA) in PRPF31 was shown to cosegregate with RP phenotype in 7 affected family members, but not in 3 unaffected family members.

Conclusions: The deletion (c.357_358delAA) in PRPF31 was the disease-causing mutation for the proband and his affected family members with RP. To our knowledge, this is the second report of the deletion and the first report of the other 2 mutations in the Chinese population. Targeted NGS combined with bioinformatics analysis proved to be an effective molecular diagnostic tool for RP.

Keywords: PRPF31; Retinitis pigmentosa; Targeted next-generation sequencing.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Asian Continental Ancestry Group
  • DNA Mutational Analysis
  • Eye Proteins / genetics*
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / genetics*


  • Eye Proteins
  • PRPF31 protein, human