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案例报告:全面探索一种新的PFKM突变在葡萄糖储存疾病的第七类型的全面探索

Ying Chen¹, Xinyu Wang², Na Ji¹

¹Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou, China.

Frontiers in genetics

|August 19, 2024

概括

糖原储存疾病第七类 (GSD VII) 是一种罕见的代谢障碍,在一名17岁的女性中被诊断出由于新的PFKM基因突变. 这一案例凸显了基因测试对于准确的GSD VII诊断和管理的重要性.

科学领域:

遗传学是一个遗传学.
代谢障碍代谢障碍代谢障碍
分子生物学分子生物学

背景情况:

糖原存储疾病 VII 型 (GSD VII) 是一种罕见的自体逆向性疾病,影响糖原代谢.
具有运动不耐受性,肌肉,肌球蛋白尿和血液溶解的特征,GSD VII具有显著的临床异质性.
诊断方面的挑战源于其多样化的表现和罕见的发生.

研究的目的:

报告一名17岁的中国女性罕见的GSD VII病例.
为了确定这个患者GSD VII的遗传基础.
扩大与GSD VII相关的PFKM突变的已知遗传谱.

主要方法:

临床评估包括肌肉活检和血液检查 (肌酸激酶,尿酸).
整个基因组测序 (WGS) 和整个外基因组测序 (WES) 用于遗传分析.
在PFKM基因中发现和描述突变.

主要成果:

患者表现出显著的肌肉衰弱和补偿的血液溶解.
肌肉活检显示了糖原沉积; 血液测试显示高尿血和增加的肌酸酶.
WGS/WES在PFKM基因中发现了两种新型化合物异构基因突变:c.626G>A和c.1376G>A.

结论:

根据临床发现和遗传结果,该患者被诊断为GSD VII.
已识别的PFKM突变扩大了GSD VII的已知遗传变异.
了解这些突变对于及时诊断,干预和治疗GSD VII至关重要.

关键词:

这就是PFKM.案例报告案例报告复合异构的突变是复合的.葡萄糖储存疾病 VII 类型血液溶解 (hemolysis) 是一种

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