MYO7A、CDH23、SLC26A4基因新突变位点导致先天性耳聋分子诊断与产前诊断  

Molecular diagnosis and prenatal diagnosis of congenital deafness induced by novel mutations of MYO7A,CDH23,and SLC26A4

作　　者：易赏 左杨瑾 文春秀[1] 何升[1] 林丽[1] 陈秋莉[1] 王梁[1] 黄丽梅 周训钊 杜娟[1] 董柏青 陈碧艳[1] YI Shang;ZUO Yang-Jin;WEN Chun-Xiu(Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region,Nanning,Guangxi 530000,China)

机构地区：[1]广西壮族自治区妇幼保健院,广西南宁530000 [2]广西壮族自治区卫生和计划生育委员会,广西南宁530021

出　　处：《中国妇幼保健》2018年第23期5517-5520,共4页Maternal and Child Health Care of China

基　　金：广西科技厅课题(桂科攻1140003B-82);广西壮族自治区卫生和计划生育委员会自筹经费科研课题(Z2016702)

摘　　要：目的通过3个先天性耳聋家系的致病基因突变分析,查找耳聋未知致病突变,帮助高风险家庭进行产前诊断。方法对5名经过常见突变位点聋病易感基因筛查阴性,但临床诊断为耳聋的患者及核心家系成员,进行听力、视力相关检查,使用基因组全外显子测序方法及基因测序方法进行检测;采集高风险家庭孕18周母亲胎儿羊水20ml1份,行产前基因分析。结果一个家系致病基因为MYO7A基因的c.397dupC和c.4937C>A两个位点复合杂合突变致病;一个家系致病基因为CDH23基因的c.7240-1G>A和c.7252G>A两个位点复合杂合突变致病;一个家系致病基因为SLC26A4基因的c.259G>T和IVS7-2A>G(c.919-2A>G)两个位点复合杂合突变致病,孕18周胎儿基因检测与先证者携带相同的致病基因。其中检出MYO7A基因的c.397dupC位点突变和CDH23基因的c.7252G>A位点突变为国内首报新突变位点。结论通过基因测序、家系临床资料分析,基因突变携带者高风险家庭产前诊断,减少出生缺陷,丰富广西耳聋突变谱。Objective To find out unknown pathogenic gene mutations of congenital deafness by analyzing the pathogenic gene mutations in three congenital deafness families,help high-risk families to perform prenatal diagnosis. Methods Hearing test and optic examination were performed among five deafness patients and their core family members with negative screening result of common mutations of susceptibility genes,genome whole exome sequencing and gene sequencing were used in the study,amniotic fluid sample( 20 ml) was obtained during 18 gestational weeks from a high-risk family for prenatal gene detection. Results Deafness of one family was caused by compound heterozygote of c. 397 dupC and c. 4937 C>A in MYO7 A gene; deafness of one family was caused by compound heterozygote of c. 7240-1 G>A and c. 7252 G > A in CDH23 gene; deafness of one family was caused by compound heterozygote of c. 259 G > T and IVS7-2 A > G( c. 919-2 A>G) in SLC26 A4 gene. The fetus during 18 gestational weeks were found with the same pathogenic gene with the propositus according to gene detection,c. 397 dupC mutation in MYO7 A gene and c. 7252 G > A mutation in CDH23 gene were first reported in China.Conclusion Gene sequencing,analysis of flinical data of families,prenatal diagnosis of high-risk families with gene mutation carriers can reduce birth defects and enrich deafness gene mutation spectrum.

关 键 词：MYO7A、CDH23、SLC26A4基因 新突变位点 遗传性耳聋 分子诊断 

分 类 号：R764.4[医药卫生—耳鼻咽喉科]