Identification of a <i><scp>GNE</scp></i> homozygous mutation in a Han‐Chinese family with <scp>GNE</scp> myopathy

Wu, Yuan; Yuan, Lamei; Guo, Yi; Lu, Anjie; Zheng, Wen; Xu, Hongbo; Yang, Yan; Hu, Pengzhi; Gu, Shaojuan; Wang, Bingqi; Deng, Hao

doi:10.1111/jcmm.13827

Cited by 7 publications

(5 citation statements)

References 30 publications

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“…Compared with other reports, these twins are some of the youngest reported and their baseline platelet counts were of the lowest values when they were diagnosed. Consistent with other reports [ 17 , 19 , 20 ], mutations in GNE associated with thrombocytopenia were within the N-acetylmannosamine (ManNAc) kinase domains of the GNE protein. Thus, this domain may be an interesting site for further investigation related to congenital thrombocytopenia associated with GNE mutations.…”

Section: Discussionsupporting

confidence: 90%

Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review

Liu

Lei

et al. 2020

BMC Med Genet

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Background Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usually results from genetic mutations. Case presentation Here we report a case of twins with severe inherited thrombocytopenia presented in the neonatal period who were shown to be compound heterozygotes for 2 UDP-N-acetylglucosamine 2-epimerase (GNE) gene mutations, c.1351C > T and c.1330G > T, of which c.1330G > T is a novel mutation. Conclusion These two GNE mutations may help in the diagnosis and management of thrombocytopenia diagnosed in neonates.

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Section: Discussionsupporting

confidence: 90%

Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review

Liu

Lei

et al. 2020

BMC Med Genet

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“… 1 The incidence rate of GNE myopathy ranged from 1 to 21 per million. 2 , 3 The clinical manifestations include distal extremity weakness with early adult‐onset, especially foot drop due to the slowly progressive weakness of the anterior tibialis muscle, with quadriceps femoris relatively unaffected. Pathological manifestations of muscle biopsy are prominent rimmed vacuoles without inflammatory response, which can especially be found in atrophied muscle fiber.…”

Section: Introductionmentioning

confidence: 99%

“…This disease is also known as distal myopathy with rimmed vacuoles (DMRV) disease or Nonaka myopathy 1 . The incidence rate of GNE myopathy ranged from 1 to 21 per million 2,3 . The clinical manifestations include distal extremity weakness with early adult‐onset, especially foot drop due to the slowly progressive weakness of the anterior tibialis muscle, with quadriceps femoris relatively unaffected.…”

Section: Introductionmentioning

confidence: 99%

Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review

Xiang

Luan

et al. 2022

Clinical Case Reports

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We reported a GNE myopathy with congenital thrombocytopenia on a young male patient. He presented with a 3‐year history of lower distal extremity weakness initially affecting his legs. The weakness slowly progressed to lower proximal legs and upper arms last 6 months. Whole‐exome sequencing revealed that the patient harbored two heterozygous gene mutations, including a novel insertion mutation c.*1037_*1038CACACACACACACACACACACA and c.C478T in exome 12 and 3 of the GNE gene (NM_001128227), respectively. The levels of serum sialic acid in this patient were considerably decreased. Muscle MRI imaging showed the anterior and medial parts of his quadriceps were heavily affected by this disease. Hematoxylin and eosin staining showed prominent rimmed vacuoles with a lack of inflammatory response in the atrophied muscle. We also undertook a review of the current literature, searching for reports in which the GNE gene mutation caused the thrombocytopenia with or without muscle weakness. This new gene mutation finding broadens the GNE disease genotype spectrum, and further investigation of the relationship between GNE gene mutations and the heterogeneity of its clinical manifestations is needed.

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“…Patients with kinase domain mutations progress faster than those with heterozygous mutations in terms of joint function [ 6 ]. It is suggested that different variants have different effects on function [ 7 ]. The spectrum of diseases caused by GNE mutations has continued to increase in recent years.…”

Section: Introductionmentioning

confidence: 99%

The role of amyloid β in the pathological mechanism of GNE myopathy

2022

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GNE myopathy is a hereditary muscle disorder characterized by muscle atrophy and weakness initially involving the lower distal extremities. The treatment of GNE myopathy mainly focuses on a sialic acid deficiency caused by a mutation in the GNE gene, but it has not achieved the expected effect. The main pathological features of GNE myopathy are myofiber atrophy and rimmed vacuoles, including accumulation of amyloid β, which is mainly found in atrophic muscle fibers. Although the role of amyloid β and other misfolded proteins on the nervous system has been widely recognized, the cause and process of the formation of amyloid β in the pathological process of GNE myopathy are unclear. In addition, amyloid β has been reported to be linked to quality control mechanisms of proteins, such as molecular chaperones, the ubiquitin–proteasome system, and the autophagy-lysosome system. Herein, we summarize the possible reasons for amyloid β deposition and illustrate amyloid β-mediated events in the cells and their role in muscle atrophy in GNE myopathy. This review represents an overview of amyloid β and GNE myopathy that could help identify a potential mechanism and thereby a plausible therapeutic for the disease.

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Identification of a GNE homozygous mutation in a Han‐Chinese family with GNE myopathy

Cited by 7 publications

References 30 publications

Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review

Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review

Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review

The role of amyloid β in the pathological mechanism of GNE myopathy

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