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Updated: Mar 3, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Identification of a Disease-Causing Mutation in a Chinese Patient with Retinitis Pigmentosa by Targeted
Jianping Xiao1, Xueqin Guo2,3, Yong Wang4
11 Prenatal Diagnosis Center, Wuxi Maternity and Children Health Hospital Affiliated Nanjing Medical University, Wuxi - China.
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.
