De novel heterozygous copy number deletion on 7q31.31-7q31.32 involving TSPAN12 gene with familial exudative vitreoretinopathy in a Chinese family
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Xun-Lun Sheng. People’s Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, Ningxia Eye Hospital, Ningxia Clinical Research Center on Diseases of Blindness in Eye, Yinchuan 750001, Ningxia Hui Autonomous Region, China. shengxunlun@163.com

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Supported by the National Natural Science Foundation of China (No.82060183); Ningxia Natural Science Foundation (No.2022AAC03388); the Key Research and Development Project of Ningxia Hui Autonomous Region (No.2021BEG02045; No.2020BEG03044).

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    Abstract:

    AIM: To investigate the genetic and clinical characteristics of patients with a large heterozygous copy number deletion on 7q31.31-7q31.32. METHODS: A family with familial exudative vitreoretinopathy (FEVR) phenotype was included in the study. Whole-exome sequencing (WES) was initially used to locate copy number variations (CNVs) on 7q31.31-31.32, but failed to detect the precise breakpoint. The long-read sequencing, Oxford Nanopore sequencing Technology (ONT) was used to get the accurate breakpoint which is verified by quantitative real-time polymerase chain reaction (QPCR) and Sanger Sequencing. RESULTS: The proband, along with her father and younger brother, were found to have a heterozygous 4.5 Mb CNV deletion located on 7q31.31-31.32, which included the FEVR-related gene TSPAN12. The specific deletion was confirmed as del(7)(q31.31q31.32)chr7:g.119451239_123956818del. The proband exhibited a phase 2A FEVR phenotype, characterized by a falciform retinal fold, macular dragging, and peripheral neovascularization with leaking of fluorescence. These symptoms led to a significant decrease in visual acuity in both eyes. On the other hand, the affected father and younger brother showed a milder phenotype. CONCLUSION: The heterozygous CNV deletion located on 7q31.31-7q31.32 is associated with the FEVR phenotype. The use of long-read sequencing techniques is essential for accurate molecular diagnosis of genetic disorders.

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Shuang Zhang, Hai-Ming Yong, Gang Zou, et al. De novel heterozygous copy number deletion on 7q31.31-7q31.32 involving TSPAN12 gene with familial exudative vitreoretinopathy in a Chinese family. Int J Ophthalmol, 2023,16(12):1952-1961

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Publication History
  • Received:July 28,2023
  • Revised:October 30,2023
  • Adopted:
  • Online: November 22,2023
  • Published: