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Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China

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机构： [1]Department of Neurology, Huashan Hospital Fudan University, Shanghai, Shanghai, China. [2]Department of Neurology and National Clinical Research Center for Geriatric Disorders, Xiangya Hospital Central South University, Changsha, Hunan, China. [3]Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong, China. [4]Department of Neurology and Department of Medical Genetics, First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China. [5]Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, China. [6]Department of Neurology, Henan Provincial People's Hospital, Zhengzhou, Henan, China. [7]Department of Neurology, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China. [8]Department of Neurology, Southeast University Zhongda Hospital, Nanjing, Jiangsu, China. [9]Department of Neurology, Shanghai Sixth People's Hospital, Shanghai, China. [10]Department of Neurology, First Hospital of Shanxi Medical University, Taiyuan, Shanxi, China. [11]Department of Neurology, Sun Yat-sen University First Affiliated Hospital, Guangzhou, Guangdong, China. [12]Department of Neurology, First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China. [13]Department of Neurology, Zhongshan Hospital Fudan University, Shanghai, Shanghai, China. [14]Department of Neurology, Fujian Medical University Union Hospital, Fuzhou, Fujian, China. [15]Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. [16]Department of Neurology, Southern Medical University Nanfang Hospital, Guangzhou, China, China. [17]Department of Neurology, First People's Hospital of Yunnan, Kunming, Yunnan, China. [18]Department of Neurology, Jing'an District Centre Hospital of Shanghai, Shanghai, Shanghai, China. [19]Department of Integrative Biology and Physiology, University of Minnesota Medical School, Minneapolis, Minnesota, USA. [20]Department of Pathology, Huashan Hospital Fudan University, Shanghai, Shanghai, China. [21]Department of Anesthesiology, Zhongshan hospital, Shanghai, China. [22]Institute for Translational Brain Research, State Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science,Fudan University, Shanghai, China. [23]Department of Neuromuscular Disease, Third Affiliated Hospital of Hebei Medical University, Shijiazhuang, Hebei, China [24]The Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Xiamen, Fujian, China

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GlcNAc2-epimerase (GNE) myopathy is a rare autosomal recessive disorder caused by pathogenic variants in the GNE gene, which is essential for the sialic acid biosynthesis pathway.This multi-centre study aimed to delineate the clinical phenotype and GNE variant spectrum in Chinese patients, enhancing our understanding of the genetic diversity and clinical manifestation across different populations.We retrospectively analysed GNE variants from 113 patients, integrating these data with external GNE variants from online databases for a global perspective, examining their consequences, distribution, ethnicity and severity.This study revealed 97 distinct GNE variants, including 35 (36.08%) novel variants. Two more patients with deep intronic variant c.862+870C>T were identified, while whole genome sequencing (WGS) uncovered another two novel intronic variants: c.52-8924G>T and c.1505-12G>A. Nanopore long reads sequencing (LRS) and further PCR analysis verified a 639 bp insertion at chr9:36249241. Missense variants predominantly located in the epimerase/kinase domain coding region, indicating the impairment of catalytic function as a key pathogenic consequence. Comparative studies with Japanese, Korean and Jewish, our cohorts showed later onset ages by 2 years. The high allele frequency of the non-catalytic GNE variant, c.620A>T, might underlie the milder phenotype of Chinese patients.Comprehensive techniques such as WGS and Nanopore LRS warrants the identifying of GNE variants. Patients with the non-catalytic GNE variant, c.620A>T, had a milder disease progression and later wheelchair use.© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.

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最新[2023]版：

大类 | 2 区医学

小类 | 2 区遗传学

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Q2 GENETICS & HEREDITY

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Q2 GENETICS & HEREDITY

影响因子： 3.6 最新[2023版] 4.1 最新五年平均 3.6 出版当年[2023版] 4.1 出版当年五年平均 4 出版前一年[2022版]

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第一作者机构： [1]Department of Neurology, Huashan Hospital Fudan University, Shanghai, Shanghai, China.

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