2例不同遗传方式中央轴空病的临床、病理、影像及基因分析

发布时间：2018-05-04 11:57

本文选题：中央轴空病 + 斯里兰卡肉桂碱受体　；参考：《中国神经精神疾病杂志》2017年09期

【摘要】：目的分析2例不同遗传方式中央轴空病患者的临床、肌肉影像学、病理学及基因突变特点,比较其临床表型和分子遗传学的异同点。方法详细收集2例患者的临床资料、肌肉MRI及病理学,靶向捕获二代测序进行基因检测,Sanger测序验证及家系共分离分析。结果 2例分别为常染色体隐性(autosomal recessive,AR)和显性(autosomal dominant,AD)患者,表现儿童早期起病,四肢近端无力伴萎缩,面肌受累;双下肢肌肉MRI见广泛肌肉萎缩及脂肪浸润,股直肌回避;病理氧化酶染色见肌纤维典型的轴空结构,AR型存在偏心轴空;发现斯里兰卡肉桂碱受体1(Ryanodine receptor 1,RYR1)基因的3个错义突变,其中一个未报道。结论本研究的2例经典型患者存在不同遗传方式,在临床表型、受累肌群分布及病理存在诸多异同,可能与RYR1基因的不同突变形式相关,靶向二代测序可以提高确诊率。
[Abstract]:Objective to analyze the clinical, muscular imaging, pathological and gene mutation features of two patients with central axonal disease with different genetic patterns, and to compare their clinical phenotypes and molecular genetics. Methods the clinical data, muscle MRI and pathology of 2 patients were collected in detail. Results two patients with autosomal recessivee (ARA) and dominant autosomal dominant ADA (AD2) showed early onset, proximal limb weakness with atrophy, facial muscle involvement, extensive muscle atrophy and fat infiltration in both lower extremity muscles, and rectus femoris muscle avoidance. Pathological Oxidase staining showed that there were eccentric axons in the typical axonal structure of muscle fibers, and three missense mutations in the 1(Ryanodine receptor 1 receptor RYR1) gene were found in Sri Lanka, one of which was not reported. Conclusion there are many similarities and differences in clinical phenotype, distribution of affected muscle group and pathology between the two classical patients, which may be related to the different mutation forms of RYR1 gene. Targeted second generation sequencing can improve the accuracy of diagnosis.
【作者单位】：福建医科大学附属第一医院神经内科;福建省神经分子重点实验室;
【基金】：国家自然科学基金资助项目(编号:81671237);国家自然科学基金资助项目(编号:U1505222) 福建省科技创新联合资金资助项目(编号:2016Y9010) 福建省自然科学基金资助项目(编号:2017J01196)
【分类号】：R746

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