摘要
目的对1例临床症状疑似假肥大型肌营养不良(DMD/BMD)的患儿进行基因诊断,并进行携带者筛查及产前诊断。方法使用多重链接探针扩增技术(MLPA)进行DMD基因79个外显子缺失或重复检测,同时应用高通量测序技术(NGS)对神经肌肉相关基因进行靶向测序,并通过Sanger测序对先证者及家系成员进行验证。结果 MLPA检测未发现患儿DMD基因外显子发生缺失或者重复突变,NGS测序发现DMD基因第39号外显子c.5544-5548delGATAA半合子突变。Sanger测序验证发现患儿母亲、弟弟(胎儿)均存在c.5544-5548delGATAA突变。结论本研究发现一种尚未病例报道的新发突变,该缺失突变是导致患儿发病的原因,MLPA结合NGS技术可有效提高疾病的诊断效率,为产前诊断提供准确信息。
Objective:To explore a genetic diagnosis of a patient with suspected pseudohypertrophic muscular dystrophy(DMD/BMD)with clinical symptoms,carrier screening and prenatal diagnosis. Methods:Multiplex ligation probe amplification(MLPA)technology was used to perform 79 exon deletion or repeated detection of DMD gene,and next generation sequencing(NGS)technology was used to target and sequence neuromuscular-related genes. Verify the proband and family members by Sanger sequencing. Results:MLPA test did not find exon deletion or repeated mutation of DMD gene in children. NGS sequencing revealed exon 39 of the DMD gene c.5544-5548 delGATAA. Sanger sequencing confirmed that the mother and younger brother(fetus)had c.5544-5548 delGATAA mutation. Conclusion:This study found a new mutation that has not been reported in the case. The deletion mutation is the cause of the disease in children. MLPA combined with NGS technology can effectively improve the diagnosis efficiency of the disease and provide accurate information for prenatal diagnosis.
作者
靳春雷
钱碧霞
陈鹏龙
杨慕枫
JIN Chun-lei;QIAN Bi-xia;CHEN Peng-long;YAIVG Mu-feng(Prenatal Diagnosis Center,Lishui Maternity and Child Health Care Hospital,Lishui,Zhejiang,323000,China)
出处
《中国优生与遗传杂志》
2018年第11期30-32,35,共4页
Chinese Journal of Birth Health & Heredity
关键词
假肥大型肌营养不良
多重链接探针扩增
高通量测序
产前诊断
Pseudohypertrophic muscular dystrophy
Multiplex ligation probe amplification
Next generation sequencing： Prenatal diagnosis
