CAJ | 학술논문

目的：分析大前庭水管综合征（large vestibular aqueduct syndrome，LVAS）患者家系的SLC26A4基因突变方式并确定其是否致病。方法采集3个特殊LVAS家系的血样，测序分析SLC26A4基因型。采用在线软件SIFT、Polyphen-2预测这3个家系中所携带的罕见突变方式的致病性，利用排除法证明c.2343+69C>A的非致病性。结果共检出5种突变方式，其中4种为致病性基因突变。先证者基因型为IVS7-2A>G/c.1594A>C，IVS7-2A>G/c.1327G>C，IVS7-2A>G/c.1667A>G，均为LVAS。基因型为c.1594A>C/2343+69C>A，c.1327G>C/c.2343+69C>A，c.1667A>G/c.2343+69C>A的受检者听力正常。结论 SLC26A4基因c.2343+69C>A突变方式是非致病的基因多态；3个家系先证者的父母再次妊娠出现聋儿的风险为25％。
목적：분석대전정수관종합정（large vestibular aqueduct syndrome，LVAS）환자가계적SLC26A4기인돌변방식병학정기시부치병。방법채집3개특수LVAS가계적혈양，측서분석SLC26A4기인형。채용재선연건SIFT、Polyphen-2예측저3개가계중소휴대적한견돌변방식적치병성，이용배제법증명c.2343+69C>A적비치병성。결과공검출5충돌변방식，기중4충위치병성기인돌변。선증자기인형위IVS7-2A>G/c.1594A>C，IVS7-2A>G/c.1327G>C，IVS7-2A>G/c.1667A>G，균위LVAS。기인형위c.1594A>C/2343+69C>A，c.1327G>C/c.2343+69C>A，c.1667A>G/c.2343+69C>A적수검자은력정상。결론 SLC26A4기인c.2343+69C>A돌변방식시비치병적기인다태；3개가계선증자적부모재차임신출현롱인적풍험위25％。
Objective To sequence and analyze the pathogenesis of the mutation of SLC26A4 gene in 3 families of LVAS.Methods Blood samples and clinical data of 3 families of LVAS were collected. A pathogenesis analysis was conducted on the rare genemutation in the families using online software. Using a process of elimination to prove that c.2343+69C>A is benign.Results We detected five SLC26A4 gene mutations from 3 families, and confirmed that four mutations out of them are pathogenic.The genotypes of IVS7-2A>G/c.1594A>C, IVS7-2A>G/c.1327G>C, IVS7-2A>G/c.1667A>G are the probands. The genotypes of c.1594A>C/c.2343+69C>A,c.1327G>C/c.2343+69C>A, c.1667A>G/c.2343+69C>A case have normal hearing.Conclusion According to our results, SLC26A4 c.2343+69C>A is not likely to be a pathogenic mutation.If the parents of any proband of these three families want to rebirth, the newborn might have 25 percent chance to be with EVAS as the proband.