A novel variant in the GNE gene in a Malian patient presenting with distal myopathy.

IF 1.6 4区 医学 Q3 CLINICAL NEUROLOGY
Neurogenetics Pub Date : 2024-10-01 Epub Date: 2024-08-01 DOI:10.1007/s10048-024-00761-z
Mahamadou Kotioumbé, Alassane B Maiga, Salia Bamba, Lassana Cissé, Salimata Diarra, Salimata Diallo, Abdoulaye Yalcouyé, Fousseyni Kané, Seybou H Diallo, Dramane Coulibaly, Thomas Coulibaly, Kékouta Dembélé, Boubacar Maiga, Cheick O Guinto, Guida Landouré
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引用次数: 0

Abstract

GNE-myopathy (GNE-M) is a rare autosomal recessive disorder caused by variants in the GNE gene. We report a novel variant in GNE causing GNE-M in a Malian family. A 19-year-old male patient from consanguineous marriage was seen for progressive walking difficulty. Neurological examination found predominant distal muscle weakness and atrophy, decreased tendon reflexes, predominating in lower limbs. Electroneuromyography showed an axonal neuropathy pattern. However, whole exome sequencing (WES) revealed a novel biallelic variant in GNE c.1838G > A:p.Gly613Glu, segregating with the phenotype within the family. This study highlights its diagnosis challenges in sub-Saharan Africa and broadens the genetic spectrum of this rare disease.

Abstract Image

马里一名远端肌病患者的 GNE 基因出现新变异。
GNE-肌病(GNE-M)是一种由 GNE 基因变异引起的罕见常染色体隐性遗传疾病。我们报告了一个马里家族中导致GNE-M的新型GNE基因变异。一名来自近亲结婚的19岁男性患者因进行性行走困难就诊。神经系统检查发现,患者主要表现为远端肌肉无力和萎缩,腱反射减弱,以下肢为主。肌电图显示为轴索型神经病。然而,全外显子组测序(WES)发现,GNE c.1838G > A:p.Gly613Glu 存在一个新的双拷贝变异,在该家族中与表型分离。这项研究凸显了撒哈拉以南非洲地区诊断该疾病的挑战,并拓宽了这种罕见疾病的遗传学范围。
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来源期刊
Neurogenetics
Neurogenetics 医学-临床神经学
CiteScore
3.90
自引率
0.00%
发文量
24
审稿时长
6 months
期刊介绍: Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry. All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.
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