全外显子组测序技术检出Kallmann syndrome患者KAL1基因新突变

目的 分析Kallmann syndrome家系患者的分子遗传机制.方法 利用全外显子组测序技术对先证者进行测序分析,按照ACMG解读规则筛选致病性突变,Sanger测序对所有家系成员验证突变结果.结果 捕获且比对到目标区的碱基量为3418.98Mb,平均测序深度为77.66X,覆盖度为99.23％,共检出5056个变异,3174为罕见变异（RSV）,KAL1基因c.1735_1736insT突变为疑似致病性突变,且满足家系共分离.结论 KAL1基因c.1735 1736insT框移突变为新的疑似致病性突变.

Whole-exome Sequencing Identified a Novel KAL1 Mutation in a Pedigree with Kallmann Syndrome

Objective To examine the molecular genetic pathogenesis in a pedigree with Kallmann Syndrome.Methods Whole-exome sequencing was performed on the proband,and the interpretations of variations were finished according the ACMG recommendation.Identified mutations were validated in all family members available by Sanger sequencing.Results A total of 3418.98Mb bases were captured and mapped to targeted region.The mean depth of targeted region was 77.66X with 99.23% coverage.5056 sequencing variations were detected,including 3174 rare sequencing variations.A novel mutation c.1735_1736insT in KAL1 gene were identified as likely pathogenic,which is co-separated in the pedigree.Conclusion c.1735_1736insT in KAL1 gene was likely a novel pathogenesis in Kallmann Syndrome.