佩梅氏病1家系临床分析及分子遗传学研究  

Clinical analysis and molecular genetics study of a family with Pelizaeus-Merzbacher disease

作　　者：马慧珠 刘文晶 袁兆红[2] MA Huizhu;LIU Wenjing;YUAN Zhaohong(Clinical College of Jining Medical University,Jining,Shandong 272029,China;Department of Child Health Care and Rehabilitation,Affiliated Hospital of Jining Medical University,Jining,Shandong 272029,China)

机构地区：[1]济宁医学院临床医学院,山东济宁272029 [2]济宁医学院附属医院儿童保健康复科,山东济宁272029

出　　处：《中国优生与遗传杂志》2022年第4期663-667,共5页Chinese Journal of Birth Health & Heredity

摘　　要：目的 分析1个佩梅氏病(PMD)家系的临床和分子遗传学特点,探讨PMD的临床表现、诊断、鉴别诊断及基因结果,并为PMD家庭提供遗传咨询。方法 收集2021年4月至2021年6月在济宁医学院附属医院儿童保健康复科确诊的2名PMD同胞患儿及其家系成员的临床资料,包括病史、体征、辅助检查等,提取此家系6名成员基因送检并进行相关分析。结果 两名患儿有眼球震颤、共济失调、肌张力障碍和发育迟缓等临床表现,基因检测示两名患儿及其母亲均有蛋白脂蛋白1(PLP1)基因2~8号外显子重复变异,其中一名患儿具有此病典型的髓鞘形成缺陷性病变的颅脑磁共振图像。结论 两名患儿具有PMD典型的临床特点,存在PLP1基因重复变异并有伴X染色体连锁隐性遗传性,我国对此病报道很少,临床医生认识不足较易将此病误诊为脑性瘫痪,因此提高对此病的认识,做到早期识别并为PMD家庭提供遗传咨询非常有必要。Objective To analyze the clinical and molecular genetic characteristics of a family with Pelizaeus-Merzbacher disease(PMD), discuss the clinical manifestations, diagnosis, differential diagnosis and genetic results of PMD, and provide genetic counseling for families with PMD. Methods From April 2021 to June 2021, the clinical data of two siblings with PMD and their family members were collected, including medical history, physical signs, auxiliary examinations, etc.,and the genes of six members of this family were extracted for inspection and correlation analysis was carried out. Results Two children had clinical manifestations such as nystagmus, ataxia, dystonia and stunting. Gene detection showed that both children and their mothers had repeated mutations in exons 2-8 of proteolipid protein 1(PLP1) gene, and one of them had MRI images of typical myelination defects. Conclusion The two children have typical clinical characteristics of PMD, with PLP1gene repeated variation and recessive inheritance associated with X chromosome linkage. There are few reports of this disease in China, and it is easy for clinicians to misdiagnose this disease as cerebral palsy. Therefore, it is necessary to improve the understanding of this disease, identify it early and provide genetic counseling for PMD family.

关 键 词：佩梅氏病(PMD) 颅脑磁共振成像 蛋白脂蛋白1(PLP1)基因 

分 类 号：R744.5[医药卫生—神经病学与精神病学]