一例PYGM基因复合杂合突变导致糖原累积症V型的诊断和基因检测分析

doi:10.16288/j.yczz.22-223

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Hereditas(Beijing) ›› 2022, Vol. 44 ›› Issue (11): 1063-1071.doi: 10.16288/j.yczz.22-223

• Genetic Resource • Previous Articles Next Articles

Diagnosis and genetic analysis of a case with glycogen storage disease type V caused by compound heterozygous mutations in the PYGM gene

Wanzi Jiang(), Yiwen Xu, Yiwen Wang, Xiaocheng Zhu, Yingyun Gong, Hongwen Zhou, Zhenzhen Fu()

Department of Endocrinology, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China

Received:2022-06-30 Revised:2022-09-07 Online:2022-11-20 Published:2022-09-16
Contact: Fu Zhenzhen E-mail:1995jwz@sina.com;zhenzhen1127@foxmail.com
Supported by:
the National Key Research and Development Program of China(2019YFA0802701);the National Key Research and Development Program of China(2018YFA0506904);the National Natural Science Foundation of China(82170882);the Major Research Plan of the National Natural Science Foundation of China(91854122)

Abstract

Abstract:

Glycogen storage disease type V is an autosomal recessive genetic disorder caused by muscle glycogen phosphorylase (PYGM) deficiency, which is characterized by exercise intolerance, second wind phenomena and high level of serum creatine kinase. In this study, we reported a Chinese young man with glycogen storage disease type V, with lower extremity weakness after exercise, increased creatine kinase, and slight fat infiltration in the posterior group of thigh muscle by magnetic resonance imaging (MRI). The proband had complex heterozygous PYGM disease-causing mutations, including c.308T>C (p.L103P) variant transmitted from the mother and c.260_261delCT (p.S87Ffs*23) from the father, of which the former was a novel PYGM mutation. This study enriched the PYGM pathogenic gene mutation spectrum, contributed to improve clinicians' understanding of glycogen storage disease type V and provided a reference for further genetic study of the disease.

Key words: glycogen storage disease type V, McArdle disease, PYGM, rare disease

Wanzi Jiang, Yiwen Xu, Yiwen Wang, Xiaocheng Zhu, Yingyun Gong, Hongwen Zhou, Zhenzhen Fu. Diagnosis and genetic analysis of a case with glycogen storage disease type V caused by compound heterozygous mutations in the PYGM gene[J]. Hereditas(Beijing), 2022, 44(11): 1063-1071.

Figures/Tables 6

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临床分级	描述
0	无症状或几乎无症状(轻度运动不耐受，但在任何日常活动中均无功能限制)
I	偶尔在日常生活中运动不耐受、痉挛、肌痛，急性剧烈运动受限；无肌红蛋白尿，无肌肉萎缩或无力
II	I情况下，加上反复劳累性肌红蛋白尿，中度运动受限，日常生活活动受限
III	II情况下，固定肌无力，伴或不伴萎缩，运动及大部分日常生活活动严重受限

c.308T>C(p.L103P)	致病性预测
SIFT	致病
Polyphen2	可能致病
Mutation Taster	致病

Diagnosis and genetic analysis of a case with glycogen storage disease type V caused by compound heterozygous mutations in the PYGM gene

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