摘要
目的对一个2A型肢带型肌营养不良(limb-girdle muscular dystrophy type 2A)家系进行CAPN3基因的致病突变分析。方法收集先证者及家系成员的外周血,提取DNA,应用全外显子测序技术对先证者进行致病基因检测,然后用Sanger测序技术对先证者家系成员进行突变位点的验证。结果全外显子测序发现先证者携带CAPN3基因c.1194-9A>G和c.1437C>T(p.ser479=)的复合杂合突变。Sanger测序验证先证者母亲为CAPN3基因c.1194-9A>G变异携带者。家系中其他患者均存在相同的复合杂合突变,其未发病的姐姐和女儿为CAPN3基因c.1437C>T(p.ser479=)变异携带者,先证者的女婿未检测到上述位点变异。结论CAPN3基因c.1194-9A>G和c.1437C>T(p.ser479=)的复合杂合突变为该家系的致病原因。
Objective To analyze the pathogenic CAPN3 gene mutations in a pedigree affected with limb-girdle muscular dystrophy type 2A.Methods Genomic DNA was extracted from the peripheral blood samples collected from the proband and family members.The whole exome sequencing was used to detect the pathogenic gene in the proband.Suspected mutations were validated by Sanger sequencing.Results The whole exome sequencing showed that the proband carried compound heterozygous mutations of c.1194-9A>G and c.1437C>T(p.ser479=).The c.1194-9A>G was inherited from his mother.The same compound heterozygous mutation was also found in other patients in the family.The proband’s sister and daughter without disease were carriers of c.1437C>T(p.ser479=),and there was no variation detected in his son-in-law.Conclusion The compound heterozygous mutations of the CAPN3 gene were probably responsible for the limb-girdle muscular dystrophy type 2A in the family.
作者
郑洁
徐晓薇
张新杰
王学韬
邹倩倩
舒剑波
蔡春泉
ZHENG Jie;XU Xiaowei;ZHANG Xinjie(Graduate College of Tianjin Medical University,Tianjin 300070,China)
出处
《中风与神经疾病杂志》
CAS
2020年第4期314-316,共3页
Journal of Apoplexy and Nervous Diseases
基金
国家自然科学基金(No.81771589)
天津市卫生行业重点攻关项目(No.16KG166)
天津市重大疾病防治科技重大专项(No.18ZXDBSY00170)。
