SCARB2基因突变致动作性肌阵挛―肾衰综合征
作者:
作者单位:

1.湖南省人民医院神经内科,湖南 长沙 410016;2.复旦大学附属华山医院神经内科,上海 200040

作者简介:

李庆华(1981—),女,副主任医师,硕士,主要从事癫痫及神经免疫性疾病的研究。Email:qinghua_159@sohu.com。

通信作者:

丁正同(1965—),男,副主任医师,博士,主要从事神经系统变性病的临床与基础研究。Email:zhtding@hotmail.com。

基金项目:


Action myoclonus-renal failure syndrome caused by SCARB2 gene mutation: A case report and literature review
Author:
Affiliation:

1.Department of Neurology, Hunan Provincial People’s Hospital, Changsha, Hunan 410016, China;2.Department of Neurology, Huashan Hospital, Fudan University, Shanghai 200040, China

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    摘要:

    背景 动作性肌阵挛―肾衰综合征(AMRF)是进行性肌阵挛性癫痫(PME)的一种类型,是一种常染色体隐性遗传性疾病,与SCARB2基因的突变相关。目的 报道SCARB2基因突变相关性AMRF家系的1个病例,并总结目前所有文献报道的AMRF患者的临床表型和遗传学特征,以提高对该病的认识。方法 回顾AMRF患者的临床资料,采用全外显子组基因靶向二代测序对AMRF家系的1个病例进行基因检测。结合文献报道,对28例(包含本例)AMRF病例资料进行总结分析。结果 AMRF患者主要临床特征为动作性肌阵挛、全身性强直阵挛性癫痫、共济失调、无认知功能障碍、伴或不伴肾功能障碍。先证者携带SCARB2基因纯合移码突变(c.350_351delAT, p.Y117Cfs*3, NM_005506.3)。先证者未患病的母亲及姐姐携带该位点的单杂合突变。国际上目前报道的28例(包括本例)SCARB2基因突变相关性AMRF中共发现22种不同的突变位点,均以常染色体隐性遗传方式发病。结论 该研究在与SCARB2基因突变相关的AMRF患者中发现了1个未见报道过的新的移码突变位点。结合文献复习,可推测当突变位点位于更靠近5端和更重要的功能域时,对蛋白产物功能的影响会更大。

    Abstract:

    Background Action myoclonus-renal failure syndrome (AMRF), a type of progressive myoclonus epilepsy (PME), is an autosomal recessive disorder associated with SCARB2 gene mutation.Objective To report a family with AMRF caused by SCARB2 gene mutation, to summarize the clinical phenotype and genetic characteristics of AMRF patients reported in literature, and to improve the awareness of this disease.Methods A retrospective analysis was performed for the clinical data of a patient with AMRF, and whole-exome targeted gene next-generation sequencing (NGS) was used to perform genetic testing of one patient in the family with AMRF. The data of 28 AMRF cases (including this case) were summarized and analyzed with reference to literature reports.Results The main clinical features of AMRF patients included action myoclonus, generalized tonic-clonic seizures, ataxia, and absence of cognitive impairment, with or without renal dysfunction. The proband carried a homozygous frameshift mutation (c.350_351delAT, p.Y117Cfs*3, NM_005506.3) in the SCARB2 gene, while the unaffected mother and sister carried a single heterozygous mutation at this site. A total of 22 mutation sites of the SCARB2 gene were reported for 28 patients (including this case) in the world, and with the presence of autosomal recessive inheritance in all patients.Conclusions This study reports a novel frameshift homozygous mutation in the SCARB2 gene identified in patients with AMRF associated with SCARB2 gene mutation. With reference to literature review, it is speculated that when a mutation site is located near the 5’-terminal and in a more important functional domain, it may have a greater impact on the function of protein product.

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李庆华,费露,丁正同456.SCARB2基因突变致动作性肌阵挛―肾衰综合征[J].国际神经病学神经外科学杂志,2022,49(3):51-58111LI Qing-Hua, FEI Lu, DING Zheng-Tong222. Action myoclonus-renal failure syndrome caused by SCARB2 gene mutation: A case report and literature review[J]. Journal of International Neurology and Neurosurgery,2022,49(3):51-58

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  • 收稿日期:2022-01-07
  • 最后修改日期:2022-04-16
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  • 在线发布日期: 2022-08-29
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