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

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

Xiao J1, Guo X2,3, Wang Y4, Shao M5, Wei X2,3, Du L2,3, Li L2,3, Sun Y3,6, Yang Y2,3.

Author information

1
1 Prenatal Diagnosis Center, Wuxi Maternity and Children Health Hospital Affiliated Nanjing Medical University, Wuxi - China.
2
2 BGI-Wuhan, Wuhan - China.
3
3 BGI-Shenzhen, Shenzhen - China.
4
4 Aier School of Ophthalmology, Wuhan Aier Eye Hospital, Central South University, Wuhan - China.
5
5 Department of Obstetrics, The Second Hospital Affiliated Kunming Medical University, Kunming - China.
6
6 Department of Biology, University of Copenhagen, Copenhagen - Denmark.

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.

KEYWORDS:

PRPF31; Retinitis pigmentosa; Targeted next-generation sequencing

PMID:
28430325
DOI:
10.5301/ejo.5000971
[Indexed for MEDLINE]

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