To identify disease-causing mutations in a Chinese patient with retinitis pigmentosa (RP).
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.
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
The deletion (c.357_358delAA) in
Eur J Ophthalmol 2017; 27(6): 791 - 796
Article Type: ORIGINAL RESEARCH ARTICLE
AuthorsJianping Xiao, Xueqin Guo, Yong Wang, Mingkun Shao, Xiaoming Wei, Lique Du, Long Li, Yan Sun, Yun Yang
- • Accepted on 21/03/2017
- • Available online on 14/04/2017
- • Published in print on 08/11/2017
This article is available as full text PDF.
- Xiao, Jianping [PubMed] [Google Scholar] 1
- Guo, Xueqin [PubMed] [Google Scholar] 2, 3
- Wang, Yong [PubMed] [Google Scholar] 4
- Shao, Mingkun [PubMed] [Google Scholar] 5
- Wei, Xiaoming [PubMed] [Google Scholar] 2, 3
- Du, Lique [PubMed] [Google Scholar] 2, 3
- Li, Long [PubMed] [Google Scholar] 2, 3
- Sun, Yan [PubMed] [Google Scholar] 3, 6
- Yang, Yun [PubMed] [Google Scholar] 2, 3, * Corresponding Author (firstname.lastname@example.org)
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.