摘要
目的探讨携带I2G基因突变的21羟化酶缺乏症(21-OHD)患儿基因突变谱,分析基因型与临床表型的关系。方法收集2009-2016年间收治的携带I2G基因突变的21-OHD患儿的临床资料,分析基因型与临床表型的关系。结果共26例患儿,男20例、女5例,失盐型(SW)22例(84.62%),单纯男性化型(SV)4例(15.38%)。I2G纯合突变16例(61.5%),除1例男童临床表现为SV外,其余15例均表现为SW。复合杂合突变10例(38.5%),其中7例为SW,分别携带有p.Q319X、p.R357W、p.R484P、p.V282L、Gll0fs、Cluster E6基因突变;1例SV女童携带p.I172N突变基因,另外2例SV男童(同胞兄弟)均携带p.Q319X突变及父源等位基因大片段重复,而母源等位基因上存在I2G杂合突变。结论携带I2G基因突变的21-OHD患儿基因型与临床表型有较好的一致性,纯合突变多表现为SW,复合杂合突变的临床表现主要取决于酶活性损害较轻的突变基因。
Objective To explore the gene mutation spectrum of 21 hydroxylase deficiency(21-OHD)with I2G gene mutation in children,and to analyze the relationship between genotypes and clinical phenotypes.Method The clinical data of 21-OHD children with I2G gene mutation during 2009-2016 were collected,and the relationship between genotypes and clinical phenotypes was analyzed.Results In 26 cases(20 males and 5 females),there were 22 cases(84.62%)of salt wasting patients(SW)and 4 cases(15.38%)of simple virilization patients(SV).There were 16 cases of I2G homozygous mutation(61.5%),in which,except that one patient was SV,the other 15 patients all showed SW.There were 10 cases of complex heterozygosity mutation(38.5%),of which 7 cases were SW,carrying p.Q319X,p.R357W,p.R484P,p.V282L,Gll0fs,ClusterE6 mutation respectively.One SV girl carried p.I172N mutation gene.The other 2 SV boys(sibling Brothers)carried p.Q319X mutation gene and there were repeats on paternal allele while there was I2G heterozygous mutation on the maternal allele.Conclusion The genotype of 21-OHD children with I2G mutation is in good agreement with clinical phenotype,and mostly homozygous mutation is SW.The clinical manifestation of compound heterozygous mutation is mainly determined by the mutant gene with less damage of enzyme activity.
作者
王会贞
卫海燕
沈凌花
杨海花
陈永兴
毋盛楠
王小红
WANG Huizhen;WEI Haiyan;SHEN Linghua;YANG Haihua;CHEN Yongxing;WU Shengnan;WANG Xiaohong(Department of Endocrinology and Genetic Metabolism,Henan Province Children’s Hospital,Zhengzhou 450052,Henan,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2018年第4期256-260,共5页
Journal of Clinical Pediatrics
