一个遗传性肾性尿崩症家系的基因诊断

Genetic diagnosis for a pedigree affected with hereditary nephrogenie diabetes insipidus

目的 确定1个遗传性肾性尿崩症(hereditary nephrogenic diabetes insipidus,HNDI)家系的分子遗传学病因。 方法 采集家系中先证者和2例有类似症状的患者及2名正常成员的外周血样,提取DNA,经二代测序确定先证者的突变位点后,对家系中的类似患者及正常成员进行该位点的测序。 结果 先证者AVPR2基因存在c.856C>T半合子突变,2例类似症状及1名正常家系成员的AVPR2基因存在c.856C>T杂合突变。 结论 AVPR2基因c.856C>T突变可能是导致该家系发生HNDI的原因。

Objective To explore the genetic basis for pedigree affected with hereditary nephrogenic diabetes insipidus (HNDI).Methods Next generation sequencing (NGS) with an osteology system gene panel was carried out for the proband. Suspected mutation was validated by Sanger sequencing of two relatives with similar symptoms and two unaffected relatives from the pedigree.Results The proband was found to carry a c. 856C>T mutation of the AVPR2 gene. The same mutation was detected in the two relatives with similar symptoms and one unaffected healthy relative.Conclusion The HNDI in this pedigree may be attributed to the c. 856C>T mutation of the AVPR2 gene.