DMD基因点突变致Becker型肌营养不良一家系临床和基因学研究

A clinical and genetic study of a family with Becker muscular dystrophy caused by point mutation of the DMD gene

摘要:

目的 探讨DMD基因错义突变导致的Becker型肌营养不良（BMD）一家系的临床和基因学特点。方法 对BMD患者一家系进行临床资料收集，对家系先证者及其母亲进行全外显子二代测序及Sanger验证。结果 家系3代中共有4例男性患者和1例女性携带者。分子遗传检测发现，先证者及其母亲携带DMD基因编码区c.503C>A（p.Ala168Asp）错义突变。结论 DMD基因c.503C>A（p.Ala168Asp）错义突变是家系中BMD患者的致病突变。

Abstract:

Objective To investigate the clinical and genetic features of a family with Becker muscular dystrophy （BMD） caused by a missense mutation in the DMD gene.Methods Clinical data were collected from the family with BMD， and whole-exome sequencing and Sanger sequencing were performed for the proband and his mother.Results There were four male patients and one female carrier in the three generations of the family. Molecular genetic testing showed that the proband and his mother carried a missense mutation of c.503C>A （p.Ala168Asp） in the coding region of the DMD gene.Conclusions The missense mutation of c.503C>A （p.Ala168Asp） in the DMD gene is the pathogenic mutation in this family with BMD.