【摘要】 目的 分析珠海地区21-羟化酶缺乏症患儿的CYP21A2基因突变特征，并探讨基因型与临床表型的关系。方法 回顾性分析2014年1月至2022年12月在珠海地区出生并确诊为21-羟化酶缺乏症的10例患儿的基因检测结果。采用长片段-聚合酶链反应(LR-PCR)技术联合二代测序进行CYP21A2基因检测，并分析患儿基因型与临床表型的相关性。结果 10例患儿中失盐型(salt wasting,SW) 7例、单纯男性化型(simple virilizing,SV) 3例；复合杂合突变9例、纯合突变1例。共检出13种突变，包括c.293-13A/C>G(I2G)、c.515T>A(p.I172N)、c.332＿339delGAGACTAC(p.G111fs)、c.955C>T(p.Q319*)、c.1069C>T(p.R357W)、c.1078G>A(p.V360M)、c.1481G>A(p.S494N)、c.710T>A(p.I237N)、c.713T>A(p.V238E)、c.719T>A(p.M240K)、c.1451＿1452delGGinsC(p.Arg484fs) 11种点突变和Exon1-3 Del和Exon1-4 Del两种大片段缺失，其中c.293-13A/C>G为最常见突变，c.1078G>A为新发突变。基因型与临床表型的一致率为88.9%(8/9)。结论 珠海地区新生儿21-羟化酶缺乏症患儿CYP21A2基因突变类型以复合杂合突变为主，主要突变基因为c.293-13A/C>G；基因型与临床表型有较高的一致性。更多还原

【Abstract】 Objective To analyze the characteristics of CYP21A2 gene mutations in children with 21-hydroxylase deficiency(21-OHD) in the Zhuhai region and explore the relationship between genotype and clinical phenotype.Methods The genetic test results of 10 children born and diagnosed with 21-OHD in the Zhuhai region from January2014 to December 2022 were retrospectively analyzed. Long-range polymerase chain reaction(LR-PCR) combined with next-generation sequencing was used for CYP21A2 gene testing, and the correlation between genotype and clinical phenotype was analyzed. Results Among the 10 children, 7 were of the salt-wasting(SW) type and 3 were of the simple virilizing(SV) type. Nine cases had compound heterozygous mutations, and one case had a homozygous mutation. A total of 13 mutations were detected, including 11 point mutations—c.293-13A/C>G(I2G), c.515T>A(p.I172N), c.332＿339 delGAGACTAC(p.G111 fs), c.955C>T(p.Q319*), c.1069C>T(p.R357W), c.1078G>A(p.V360M), c.1481G>A(p.S494N), c.710T>A(p.I237N), c.713T>A(p.V238E), c.719T>A(p.M240K), c.1451＿1452 delGGinsC(p.Arg484 fs)—and two large fragment deletions(Exon1-3 Del and Exon1-4 Del). Among these, c.293-13A/C>G was the most common mutation, and c.1078G>A was a novel mutation. The concordance rate between genotype and clinical phenotype was88.9%(8/9). Conclusion In neonates with 21-OHD in the Zhuhai region, the CYP21A2 gene mutation type is predominantly compound heterozygous mutations, with c.293-13A/C>G being the main mutant gene. There is a high consistency between genotype and clinical phenotype.更多还原