假肥大型肌营养不良一个核心家系DMD基因分析

Analysis of DMD Gene in One Chinese Family with Duchenne/Becker Muscular Dystrophy

目的对临床诊断的假肥大型肌营养不良1例患儿进行基因诊断,同时进行携带者筛查。方法采用目标区序列捕获及第2代高通量测序技术对假肥大型肌营养不良患儿进行检测,同时采用Sanger测序技术对患者及其父母的基因型进行验证。结果发现患儿DMD基因第45外显子存在1个纯合无义突变c.6589A>T(P.Lys2197X),患儿母亲为杂合突变携带者。结论本研究发现了一个尚未报道的致病性基因突变位点,同时发现第2代测序技术可以快速准确检测出DMD基因的点突变,具有一定的临床应用价值,为遗传咨询提供准确信息。

Objective To explore the gene diagnosis of Duchenne muscular dystrophy （DMD）/Becker muscular dystrophy （BMD） patients and screen the carrier.Metbods Next-generation sequencing was used to examine patient in whom no exonic deletions were detected by multiplex PCR.Sanger sequencing were applied to confirm the results.Results The proband had a homozygous nonsense mutation in exon 45-c.6589A ＞ T （P.Lys2197X）,and his mother was the heterozygous nonsense mutation carrier.Conclusion An unreported deleterious mutation of the DMD gene is found in an Chinese family with DMD.Next-generation sequencing technology is a simple and quick diagnostic tool for screening point mutation of DMD/BMD,and is valuable for clinical application and assisting genetic counseling.