肢带型肌营养不良2B型一例  

A Case of Limb-Girdle Muscular Dystrophy Type 2B

作　　者：赵倩 柳宛辰 郭媛媛 朱韶华 郝胜菊[1] 周秉博 ZHAO Qian;LIU Wan-chen;GUO Yuan-yuan;ZHU Shao-hua;HAO Sheng-ju;ZHOU Bing-bo(Medical Genetics Center,Gansu Maternal and Child Health Hospital,Gansu Central Hospital,Key Laboratory of Birth Defects Prevention and Control and Clinical Research Center of Gansu Province,Lanzhou 730050,China)

机构地区：[1]甘肃省妇幼保健院/甘肃省中心医院医学遗传学中心,甘肃省出生缺陷防控重点实验室与罕见病临床研究中心,兰州730050

出　　处：《国际生殖健康／计划生育杂志》2024年第2期115-117,126,共4页Journal of International Reproductive Health/Family Planning

基　　金：甘肃省科技计划项目(21JR7RA680)。

摘　　要：肢带型肌营养不良是以骨盆带和肩胛带为主呈进行性肌肉改变的一组肌肉疾病,常在儿童期发病,具有明显的遗传异质性。报道1例因支气管肺炎就诊患儿,经全外显子组测序技术筛选相关基因变异位点,Sanger测序技术验证分析可疑变异位点。发现患儿DYSF基因(NM_003494)存在外显子12位点c.2974T>C(p.W992R)和外显子28位点c.1169A>G(p.D390G)的复合杂合变异,其中位点c.2974T>C(p.W992R)遗传自父亲,位点c.1169A>G(p.D390G)遗传自母亲。按照美国医学遗传学与基因组学学会指南二者均为截断变异(PVS1)且正常人群数据库未收录,均为罕见变异(PM2_Supporting证据),评估为可能致病性变异(likely pathogenic)。Sanger测序验证结果与全外显子组测序结果相一致,患儿最终诊断为肢带型肌营养不良2B型。全外显子组测序技术可为肢带型肌营养不良提供基因分析和产前诊断,在临床决策、遗传咨询及再次妊娠计划等方面具有关键性价值。Limb-girdle type muscular dystrophy is a group of muscle myopathies with the progressive muscle change mainly in the pelvic girdle and shoulder girdle.It often occurs in childhood with obvious genetic heterogeneity.We reported a case of limb-girdle type muscular dystrophy that a child was diagnosed firstly as bronchopneumonia.The whole exome sequencing technology was used to screen the variant sites of related genes,Sanger sequencing technology was used to analyze and verify the suspected variant sites.The child was found to have the compound heterozygous mutations of DYSF gene(NM_003494),a c.2974T>C(p.W992R)mutation in exon 12 and a c.1169A>G(p.D390G)mutation in exon 28.The locus c.2974T>C(p.W992R)was inherited from the father,and the locus c.1169A>G(p.D390G)from the mother.Both variants were the truncating variants(PVS1).They were not included in the gene database of normal population,so they were rare variants(PM2_Supporting).Therefore,both variants were assessed as the likely pathogenic variants.The validation results of Sanger sequencing were consistent with the results of whole exome sequencing.Accordingly,the child was finally diagnosed as limb-girdle muscular dystrophy type 2B.Whole exome sequencing technology can provide genetic analysis and prenatal diagnosis for limb-girdle type muscular dystrophy,and has key value in clinical decision-making,genetic counseling and re-pregnancy planning.

关 键 词：肌营养不良 肢带型 肌无力 肌酸激酶 全外显子组测序 病例报告 

分 类 号：R746.2[医药卫生—神经病学与精神病学]