机构：[1]Department of Pediatrics, Beijing Tongren Hospital, Capital Medical University, No 2, Xihuan South Road, Yizhuang Economic and Technological Development Zone, Beijing 100176, China临床科室儿科首都儿科研究所首都医科大学附属北京同仁医院首都医科大学附属同仁医院[2]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Institute of Ophthalmology, Beijing Key Laboratory of Ophthalmology and Visual Sciences, Beijing 100730, China研究所眼科研究所首都医科大学附属北京同仁医院首都医科大学附属同仁医院
Retinoblastoma (RB) is the most common primary intraocular malignant tumor in infants and the prototype of human hereditary tumors. Its occurrence and development are closely related to the pathogenic variant of tumor suppressor RB1 gene. We aim to analyze the characteristics of RB1 gene pathogenic variant and clinical phenotype in retinoblastoma patients and their relatives. Children with RB were recruited from August 2007 to November 2017. QT-PCR, probing, and gene sequencing were used to analyze the sequence of RB1 gene in RB children, their parents, or grandparents with a clear history of illness. The SPSS20.0 software was used to analyze the correlation between polymorphisms of RB1 gene and the incidence and prognosis of the enrolled children and relatives. 40 RB children (20 males and 20 females) were recruited, unilateral RB accounted for 52.5% (21/40), bilateral RB accounted for 42.5% (17/40), and trilateral RB accounted for 5.0% (2/40). 6 patients had a clear family history (15.0%, 6/40). It had been verified that 19 probands (47.5%) have RB1 gene pathogenic variants (11 frameshift and 8 missense pathogenic variants), of which germline inheritance accounted for 47.4% (9/19) and nongermline heredity accounted for 52.6% (10/19). Pathogenic variants of 10 nucleic acid sites without reported were found, among which c.2455C>G (p.L819V) was confirmed to have heterozygous pathogenic variants in both a bilateral RB patient and his mother with unilateral RB. Family genetic high-risk factors, bilateral/trilateral RB, >12-month-onset RB have a higher proportion of RB1 gene pathogenic variant than children with no family history, unilateral RB, and <= 12-month (P=0.021, 0.001,0.034). The proportion of pedigree inheritance of infantile retinoblastoma with bilateral disease is high. There was a certain proportion of RB1 gene pathogenic variant in 3-5-year-old children with bilateral RB, even if they had no family genetic history. Therefore, the detection of RB1 gene pathogenic variant should not only focus on infants but also on the phenotype of RB1 gene pathogenic variant in children over 3 years old with bilateral eye disease.
基金：
Beijing Municipal Administration of Hospitals Mission Plan [DFL20180201, DFL 20190201]
语种：
外文
被引次数：
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2020]版：
大类|3 区医学
小类|3 区生物工程与应用微生物3 区遗传学3 区病理学4 区医学：研究与实验
最新[2023]版：
无
JCR分区：
出版当年[2019]版：
Q2BIOTECHNOLOGY & APPLIED MICROBIOLOGYQ2PATHOLOGYQ3GENETICS & HEREDITYQ3MEDICINE, RESEARCH & EXPERIMENTAL
第一作者机构：[1]Department of Pediatrics, Beijing Tongren Hospital, Capital Medical University, No 2, Xihuan South Road, Yizhuang Economic and Technological Development Zone, Beijing 100176, China
共同第一作者：
通讯作者：
推荐引用方式(GB/T 7714)：
Zhang Yi,Wang Yizhuo,Huang Dongsheng,et al.Correlation between Family RB1 Gene Pathogenic Variant with Clinical Features and Prognosis of Retinoblastoma under 5 Years Old[J].DISEASE MARKERS.2021,2021:doi:10.1155/2021/9981028.
APA：
Zhang, Yi,Wang, Yizhuo,Huang, Dongsheng,Ma, Jianmin,Zhang, Weiling...&Zhang, Pinwei.(2021).Correlation between Family RB1 Gene Pathogenic Variant with Clinical Features and Prognosis of Retinoblastoma under 5 Years Old.DISEASE MARKERS,2021,
MLA：
Zhang, Yi,et al."Correlation between Family RB1 Gene Pathogenic Variant with Clinical Features and Prognosis of Retinoblastoma under 5 Years Old".DISEASE MARKERS 2021.(2021)
