第二代测序技术检测1例假肥大型肌营养不良家系Dystrophin基因突变

Detection of a novel point mutation in the dystrophin gene in a Chinese pedigree with Duchenne muscular dystrophy by nextgeneration sequencing

目的探讨第二代测序(NGS)技术检测假肥大型肌营养不良患者的可行性。方法用NGS技术检测1例假肥大型肌营养不良(DMD)患者,并用Sanger测序技术对患者基因型进行验证,同时检测家系其他成员基因型。结果 NGS技术结果表明,该患者DMD基因编码区第55号外显子存在1个移码突变c.8087delT(p.Leu2696ArgfsX30),为致病性突变;同时该患者还存在3个错义突变p.Arg2937Gln、p.Arg1745His和p.Asp882Gly,均为已知多态性变异;Sanger测序技术进一步证实了该点突变的存在,同时发现患者母亲为该突变的携带者,患者父亲和妹妹未见该突变。结论 NGS技术可用于DMD基因突变检测,为DMD临床遗传咨询和治疗提供了依据。

Objective To explore the feasibility of detecting the genetic cause of Duchenne muscular dystrophy （DMD） by the next- generation sequencing （NGS） technology. Methods The mutation of the dystrophin gene in a Chinese pedigree with DMD was detec- ted by the NGC technology. Meanwhile, the genotype of each person in the pedigree was validated by Sanger sequencing. Results NGS showed that a novel point mutation （ c. 8087delT） in exon 55 of the dystrophin gene and 3 known missense mutations including p. Arg2937Gln, p. Arg1745His and p. Asp882Gly existed in the patient. The new point mutation was also further confirmed by Sanger se- quencing. Meanwhile, it was found that the patient＇s mother was the carrier of the new point mutation, and there was no the new muta- tion in the patient＇s father and sister. Conclusion NGS can be used to detect the mutation of DMD gene, which will provide the basis for clinical genetic counseling and treatment of DMD patients.