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Identification of a disease-causing mutation in a Chinese patient with retinitis pigmentosa by targeted next-generation sequencing

Abstract

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.

Eur J Ophthalmol 2017; 27(6): 791 - 796

Article Type: ORIGINAL RESEARCH ARTICLE

DOI:10.5301/ejo.5000971

Authors

Jianping Xiao, Xueqin Guo, Yong Wang, Mingkun Shao, Xiaoming Wei, Lique Du, Long Li, Yan Sun, Yun Yang

Article History

Disclosures

Financial support: No financial support was received for this submission.
Conflict of interest: None of the authors has conflict of interest with this submission.

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Authors

Affiliations

  •  Prenatal Diagnosis Center, Wuxi Maternity and Children Health Hospital Affiliated Nanjing Medical University, Wuxi - China
  •  BGI-Wuhan, Wuhan - China
  •  BGI-Shenzhen, Shenzhen - China
  •  Aier School of Ophthalmology, Wuhan Aier Eye Hospital, Central South University, Wuhan - China
  •  Department of Obstetrics, The Second Hospital Affiliated Kunming Medical University, Kunming - China
  •  Department of Biology, University of Copenhagen, Copenhagen - Denmark
  •  Jianping Xiao, Xueqin Guo and Yun Yang contributed equally to this work.

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