Research Papers: Pathology:
Next generation sequencing identified novel heterozygous nonsense mutation in CNGB1 gene associated with retinitis pigmentosa in a Chinese patient
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Santasree Banerjee1,*, Junping Yao2,*, Xinxin Zhang1,*, Jianjun Niu3 and Zhongshan Chen4
1 Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, China
2 Department of Ophthalmology, Tianyou Hospital Affiliated to Wuhan University of Science & Technology, Wuhan, China
3 Department of Ophthalmology, General Hospital of Xinjiang Military Area Command of Chinese PLA, Urumqi, China
4 Department of Ophthalmology, Zhongnan Hospital of Wuhan University, Wuhan, China
* These authors contributted equally to this work
Zhongshan Chen, email:
Keywords: retinitis pigmentosa, CNGB1gene, midperipheral visual field, rod photoreceptor cells, loss of vision, Pathology Section
Received: June 06, 2017 Accepted: September 08, 2017 Published: October 10, 2017
Retinitis pigmentosa (RP) is a severe hereditary eye disease characterized by progressive degeneration of photoreceptors and subsequent loss of vision. Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal diseases. Germline mutations of CNGB1 is associated with retinitis pigmentosa. We have identified and investigated a 34-year-old Chinese man with markedly have night vision blindness and loss of midperipheral visual field. The proband also lose his far peripheral visual field and also central vision. Proband’s retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Target exome capture based next generation sequencing and Sanger sequencing identified novel nonsense mutation, c.1917G>A and a reported mutation, c.2361C>A, in the CNGB1 gene. Both the nonsense mutations are predicted to lead to the formation of a premature stop codon which finally results into formation of truncated CNGB1 protein product which finally predicted to be disease causing. According to the variant classification guidelines of ACMG, these two variants are categorized as “likely pathogenic” variants. Our findings expand the mutational spectra of CNGB1 and are valuable in the mutation-based pre- and post-natal screening and genetic diagnosis for retinitis pigmentosa.
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