Gene analysis and clinical features of 22 GNE myopathy patients.

Abstract

INTRODUCTION:

GNE myopathy is an autosomal recessive distal myopathy caused by a biallelic mutation in UDP-N-acetylglucosamine 2-epomerase/N-acetylmannosamine kinase. In this study, we discuss the clinical features, pathological characteristics, genetic profiles, and atypical clinical manifestations of 22 Chinese GNE patients.

MATERIALS AND METHODS:

Retrospective analysis was performed for GNE myopathy patients at our institute between 2005 and 2021. Histopathological analysis and gene testing were done according to standard protocols.

RESULTS:

Molecular analysis revealed 14-reported and 7 novel mutations, including c.125G > A (p.P42Q), c.226G > A (p.V76I), c.970C > G (p.H324D), c.155A > G (p.D52G), c.1055G > A (p.R352H), c.1064G > A (p.G355E), and c.491 T > C (p.I164T) in GNE. D207V was the most frequent mutation showing an allele frequency of 25%. A total of 21 patients presented classic clinical manifestation, and only 1 patient had signs of proximal muscle weakness. A patient containing p.V603L and p.R160X mutations showed idiopathic thrombocytopenia and distal weakness. There were 4 female patients who experienced rapid deterioration after pregnancy.

DISCUSSION:

Our study revealed 7 novel mutations in GNE, where p.D207V was shown as a potential hotspot mutation in Chinese patients. Idiopathic thrombocytopenia should be a concern in GNE myopathy patients. Twenty-seven percent of female patients experienced rapid deterioration during pregnancy or after delivery.

• Authors: Xuan Guo, Zhe Zhao, Hongrui Shen, Qi Bing, Nan Li, Jiannan Chen, Jing Hu
• Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (Neurol Sci) Vol. 43 Issue 8 Pg. 5049-5056 (Aug 2022) ISSN: 1590-3478 [Electronic] Italy
• PMID: 35438352 (Publication Type: Journal Article)
• Copyright: © 2022. Fondazione Società Italiana di Neurologia.

Chemical References

• Multienzyme Complexes

Topics

• Distal Myopathies (diagnosis, genetics, pathology)
• Female
• Humans
• Multienzyme Complexes (genetics)
• Muscle, Skeletal (pathology)
• Mutation (genetics)
• Retrospective Studies
• Thrombocytopenia (pathology)