The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIa
Objective: To investigate the clinical features, skeletal muscle imaging, and muscle pathological characteristics of late-onset GSD IIIa caused by mutation of the AGL gene in adults.Methods: The clinical data, skeletal muscle imaging, pathological data, and gene test results of a family with late-on...
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Frontiers Media S.A.
2020-11-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2020.554012/full |
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| author | Qianqian Qu Qi Qian Jiejing Shi Haiyan Liu Yan Zhang Wenhao Cui Ping Chen Haidong Lv |
| author_facet | Qianqian Qu Qi Qian Jiejing Shi Haiyan Liu Yan Zhang Wenhao Cui Ping Chen Haidong Lv |
| author_sort | Qianqian Qu |
| collection | DOAJ |
| description | Objective: To investigate the clinical features, skeletal muscle imaging, and muscle pathological characteristics of late-onset GSD IIIa caused by mutation of the AGL gene in adults.Methods: The clinical data, skeletal muscle imaging, pathological data, and gene test results of a family with late-onset GSD IIIa in adulthood were collected in detail in November 2019.Results: The proband is a 40-years-old male, who was admitted into our hospital due to a 2-years history of limb weakness. The proband was diagnosed with the following syndrome: he had a 15-years history of elevated muscle enzymes; the cranial nerve examinations showed no abnormal findings; the muscle tension in both upper and lower limbs was low, and tendon reflexes were absent; the proband's muscle strength was 5 in the proximal muscles and 4 in the distal muscles of the upper limbs, with 3 in the proximal muscles and 4 in the distal muscles of the lower limbs; Magnetic Resonance Imaging (MRI) revealed abnormally high signal intensity changes in the posterior thigh muscle group, and the posterior-medial calf muscle group; and vacuoles were evident in some muscle fibers biopsied from the gastrocnemius muscle. Periodic acid-Schiff staining stained the cytoplasm of muscle fibers a dark red color. The proband's older brother exhibited the same clinical features. DNA analysis identified mutations in the AGL gene in the proband, his older brother, and parents. The proband and his older brother both carried two compound heterozygous mutations, c.866G>A and c.2855_2856insT. Pedigree analysis demonstrated that c.866G>A and c.2855_2856insT mutations had been inherited from the mother and father, respectively.Conclusion: Late-onset GSD IIIa in adults is clinically characterized by muscle weakness, muscle atrophy, and mainly occurred in the posterior thigh muscle group. We also identified two novel compound heterozygous mutations (c.866G> A and c.2855_2856insT) in the AGL gene. |
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| publishDate | 2020-11-01 |
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| series | Frontiers in Neurology |
| spelling | doaj.art-e9bf7b7ecc9244b091d3efeb57813c042022-12-21T22:44:06ZengFrontiers Media S.A.Frontiers in Neurology1664-22952020-11-011110.3389/fneur.2020.554012554012The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIaQianqian Qu0Qi Qian1Jiejing Shi2Haiyan Liu3Yan Zhang4Wenhao Cui5Ping Chen6Haidong Lv7Department of Neurology, The People's Hospital of Jiaozuo City, Jiaozuo, ChinaDepartment of Neurology, The People's Hospital of Jiaozuo City, Jiaozuo, ChinaDepartment of Neurology, The People's Hospital of Jiaozuo City, Jiaozuo, ChinaDepartment of Neurology, The People's Hospital of Jiaozuo City, Jiaozuo, ChinaDepartment of Neurology, The People's Hospital of Jiaozuo City, Jiaozuo, ChinaGraduate School of Xinxiang Medical University, Xinxiang, ChinaGraduate School of Xinxiang Medical University, Xinxiang, ChinaDepartment of Neurology, The People's Hospital of Jiaozuo City, Jiaozuo, ChinaObjective: To investigate the clinical features, skeletal muscle imaging, and muscle pathological characteristics of late-onset GSD IIIa caused by mutation of the AGL gene in adults.Methods: The clinical data, skeletal muscle imaging, pathological data, and gene test results of a family with late-onset GSD IIIa in adulthood were collected in detail in November 2019.Results: The proband is a 40-years-old male, who was admitted into our hospital due to a 2-years history of limb weakness. The proband was diagnosed with the following syndrome: he had a 15-years history of elevated muscle enzymes; the cranial nerve examinations showed no abnormal findings; the muscle tension in both upper and lower limbs was low, and tendon reflexes were absent; the proband's muscle strength was 5 in the proximal muscles and 4 in the distal muscles of the upper limbs, with 3 in the proximal muscles and 4 in the distal muscles of the lower limbs; Magnetic Resonance Imaging (MRI) revealed abnormally high signal intensity changes in the posterior thigh muscle group, and the posterior-medial calf muscle group; and vacuoles were evident in some muscle fibers biopsied from the gastrocnemius muscle. Periodic acid-Schiff staining stained the cytoplasm of muscle fibers a dark red color. The proband's older brother exhibited the same clinical features. DNA analysis identified mutations in the AGL gene in the proband, his older brother, and parents. The proband and his older brother both carried two compound heterozygous mutations, c.866G>A and c.2855_2856insT. Pedigree analysis demonstrated that c.866G>A and c.2855_2856insT mutations had been inherited from the mother and father, respectively.Conclusion: Late-onset GSD IIIa in adults is clinically characterized by muscle weakness, muscle atrophy, and mainly occurred in the posterior thigh muscle group. We also identified two novel compound heterozygous mutations (c.866G> A and c.2855_2856insT) in the AGL gene.https://www.frontiersin.org/articles/10.3389/fneur.2020.554012/fullglycogen storage disease type IIIglycogen debrancher enzymegene mutationskeletal muscle MRIAGL gene |
| spellingShingle | Qianqian Qu Qi Qian Jiejing Shi Haiyan Liu Yan Zhang Wenhao Cui Ping Chen Haidong Lv The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIa Frontiers in Neurology glycogen storage disease type III glycogen debrancher enzyme gene mutation skeletal muscle MRI AGL gene |
| title | The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIa |
| title_full | The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIa |
| title_fullStr | The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIa |
| title_full_unstemmed | The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIa |
| title_short | The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIa |
| title_sort | novel compound heterozygous mutations in the agl gene in a chinese family with adult late onset glycogen storage disease type iiia |
| topic | glycogen storage disease type III glycogen debrancher enzyme gene mutation skeletal muscle MRI AGL gene |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2020.554012/full |
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