De novel heterozygous copy number deletion on 7q31.31-7q31.32 involving TSPAN12 gene with familial exudative vitreoretinopathy in a Chinese family  

作　　者：Shuang Zhang Hai-Ming Yong Gang Zou Mei-Jiao Ma Xue Rui Shang-Ying Yang Xun-Lun Sheng 

机构地区：[1]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

出　　处：《International Journal of Ophthalmology(English edition)》2023年第12期1952-1961,共10页国际眼科杂志（英文版）

基　　金：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).

摘　　要：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 FEVRrelated 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.

关 键 词：familial exudative vitreoretinopathy copy number variation copy number deletion TSPAN12 longread sequencing 

分 类 号：R774.1[医药卫生—眼科]