采用第二代测序技术发现一个中国耳聋家庭SLC26A4基因突变

SLC26A4 mutations in a Chinese deafness family discovered by next-generation sequencing technology

目的明确一例非综合征型耳聋患者的致病基因。方法收集患儿及其父母的血样，提取基因组DNA，采用SNaPshot技术和第二代测序技术进行耳聋基因检测，采用聚合酶链反应（PCR）直接测序方法对检测出的SLC26A4基因突变进行验证。结果该耳聋患儿的SLC26A4基因存在P．V306GfsX2A和P．P516PfsXll复合杂合突变，其父亲存在P．V306GfsX24杂合突变，母亲存在P．P516PfsXll杂合突变。结论SLC26A4基因P．V306GfsX24和P．P516PfsXll复合杂合突变是导致该患者耳聋发生的原因。第二代测序技术可准确检测耳聋基因的新突变，具有一定的临床应用价值。

Objective To identify the molecular etiopathogenesis for a non-syndromic hearing loss patient. Methods The core family, consisted of the patient and his parents, was recruited. Genomic DNA was extracted from peripheral blood. Mutation analysis was carried out by SNaPshot and next-generation sequencing technology. Mutations in SLC26A4 gene were verified by polymerase chain reaction and direct sequencing. Results Compound heterozygous mutations p. V306GfsX24 and p. PS16PfsX11 in SLC26A4 gene were detected in the patient, heterozygous mutation p. V306GfsX24 was detected in the father, heterozygous mutation p. P516PfsXI1 was detected in the mother. Conclusions Compound heterozygous mutations p. V306GfsX24 and p. P516PfsXll contributed to patient＇s hearing loss. Next-generation sequencing technology is a useful tool for detecting de novo mutations of deafness genes, and is clinical applicable.