Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.
Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.
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DOI：
10.1007/s10792-022-02341-2
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发表时间：
2022-11
影响因子：
1.6
通讯作者：
Li, Bing
中科院分区：
文献类型：
--
作者：
Li, Luting;Li, Haibo;Zhang, Jing;Gan, Hairun;Liu, Ruihong;Hu, Xinyan;Pang, Pengfei;Li, Bing
[目的]检测114例视网膜母细胞瘤患者的RB1基因突变谱。从114例RB患者外周血中提取基因组DNA。采用聚合酶链式反应和Sanger直接测序的方法检测RB1基因的突变情况，该基因包含26个外显子，除外显子15外，其余外显子均为侧翼序列。临床资料包括性别、发病年龄、眼部病变的偏侧性和相关症状，并进行比较。我们在RB1基因中发现了五个新的突变。在这项研究中发现的其他25个突变之前也曾被报道过。还观察到了更高的RB1突变率，双侧受累患者中有47.3%的突变，单侧受累患者中为6.8%(p <； 0.0001)。与单侧受累患者相比，双侧受累患者被诊断得更早(11 ± 7个月对20 ± 14个月，p = 0.0002)。无义突变较多(n = 14)，其次为移码突变(n = 8)、剪接点突变(n = 5)，错义突变较少(n = 3)。我们在RB1基因中发现了五个新的突变，这扩大了该基因的突变谱。双侧RB患儿较单侧RB患儿有较高的突变率和较早的诊断时间。这些发现将为RB患者的临床诊断和基因治疗靶向提供依据。网上版载有补充材料，可在10.1007/s10792-022-02341-2查阅。
To identify the spectrum of RB1 gene mutations in 114 Chinese patients with retinoblastoma. Genomic DNA was extracted from the peripheral blood of 114 Rb patients. Polymerase chain reactions (PCRs) followed by direct Sanger sequencing were used to screen for mutations in the RB1 gene, which contains 26 exons with flanking intronic sequences, except exon 15. Clinical data, including gender, age at diagnosis, laterality of ocular lesions, and associated symptoms, were recorded and compared. We identified five novel mutations in the RB1 gene. Twenty-five other mutations found in this study have been previously reported. A higher rate of RB1 mutations, with 47.3% of mutations among bilaterally affected patients vs. 6.8% within unilaterally affected patients, was also observed (p < 0.0001). Bilaterally affected patients were diagnosed earlier when compared to unilaterally affected patients (11 ± 7 months versus 20 ± 14 months, p = 0.0002). Furthermore, nonsense mutations were abundant (n = 14), followed by frameshift mutations (n = 8), splicing site mutations (n = 5), while missense mutations were few (n = 3). We found five novel mutations in RB1 genes, which expands the mutational spectrum of the gene. Children with bilateral Rb exhibited higher mutation rates and were diagnosed earlier than those with unilateral Rb. These findings will inform clinical diagnosis and genetic therapeutic targeting in Rb patients. The online version contains supplementary material available at 10.1007/s10792-022-02341-2.
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