Novel mutations in PDE6B causing human retinitis
pigmentosa
Lu-Lu Cheng; Ru-Yi Han; Fa-Yu Yang; Xin-Ping Yu; Jin-Ling Xu; Qing-Jie Min; Jie Tian; Xiang-Lian Ge; Si-Si Zheng; Ye-Wen Lin; Yi-Han Zheng; Jia Qu; Feng Gu
【期刊名称】《《国际眼科杂志：英文版》》 【年(卷),期】2016(000)008
【摘要】AIM: To identify the genetic defects of a Chinese patient with sporadic
retinitis
pigmentosa(RP).METHODS:
Ophthalmologic
examinations were performed on the sporadic RP patient, 144 genes associated with retinal diseases were scanned with capture next generation sequencing(CNGS) approach.Two heterozygous mutations in PDE6B were confirmed in the pedigree by Sanger sequencing subsequently. The carrier frequency of PDE6B mutations of reported PDE6B mutations based on the available two public exome databases(1000 Genomes Project and ESP6500 Genomes Project) and one in-house exome database was investigated.RESULTS: We identified compound heterozygosity of two novel nonsense mutations c.1133G>A(p.W378X) and c.2395C>T(p.R799X) in PDE6B, one reported causative gene for RP. Neither of the two mutations in our study was presented in three exome databases. Two mutations(p.R74 C and p.T604I) in PDE6B have relatively high frequencies in the ESP6500 and in-house databases,respectively, while no common dominant mutation
in each of the database or across all databases.CONCLUSION: We demonstrates that compound heterozygosity of two novel nonsense mutations in PDE6B could lead to RP. These results collectively point to enormous potential of next-generation sequencing in determining the genetic etiology of RP and how various mutations in PDE6B contribute to the genetic heterogeneity of RP. 【总页数】6页(P.1094-1099)
【关键词】compound heterozygosity; retinitis pigmentosa; mutation; capture next generation sequencing; PDE6B
【作者】Lu-Lu Cheng; Ru-Yi Han; Fa-Yu Yang; Xin-Ping Yu; Jin-Ling Xu; Qing-Jie Min; Jie Tian; Xiang-Lian Ge; Si-Si Zheng; Ye-Wen Lin; Yi-Han Zheng; Jia Qu; Feng Gu
【作者单位】School of Ophthalmology and Optometry Eye Hospital Wenzhou Medical University State Key Laboratory Cultivation Base and Key Laboratory of Vision Science Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry; Institute of Genomic Medicine Wenzhou Medical University 【正文语种】中文 【中图分类】R774.1 【文献来源】
https://www.zhangqiaokeyan.com/academic-journal-cn_international-journal-ophthalmology_thesis/0201273695949.html
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Novel mutations in PDE6B causing human retinitis pigmentosa
