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首页> 外文期刊>Human mutation >LAMA2 LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin‐α2 variome and its related phenotypes
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LAMA2 LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin‐α2 variome and its related phenotypes

机译：Lama2 Lama2基因突变更新：朝着层粘连蛋白-α2Varioome及其相关表型更全面的图像

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摘要

Abstract Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early‐onset muscle disease, caused by disease‐associated variants in the laminin‐α2 ( LAMA2 ) gene. MDC1A usually presents as a severe neonatal hypotonia and failure to thrive. Muscle weakness compromises normal motor development, leading to the inability to sit unsupported or to walk independently. The phenotype associated with LAMA2 defects has been expanded to include milder and atypical cases, being now collectively known as LAMA2 ‐related muscular dystrophies ( LAMA2 ‐MD). Through an international multicenter collaborative effort, 61 new LAMA2 disease‐associated variants were identified in 86 patients, representing the largest number of patients and new disease‐causing variants in a single report. The collaborative variant collection was supported by the LOVD‐powered LAMA2 gene variant database ( https://www.LOVD.nl/LAMA2 ), updated as part of this work. As of December 2017, the database contains 486 unique LAMA2 variants (309 disease‐associated), obtained from direct submissions and literature reports. Database content was systematically reviewed and further insights concerning LAMA2 ‐MD are presented. We focus on the impact of missense changes, especially the c.2461A??C (p.Thr821Pro) variant and its association with late‐onset LAMA2 ‐MD. Finally, we report diagnostically challenging cases, highlighting the relevance of modern genetic analysis in the characterization of clinically heterogeneous muscle diseases.
机译：摘要先天性肌营养不良型1A（MDC1A）是由层蛋白-α2（喇嘛2）基因中的疾病相关变体引起的早期肌肉疾病的主要亚型之一。 MDC1A通常作为严重的新生儿肺炎，并且未能茁壮成长。肌肉弱点妥协了正常的电机开发，导致无法支持或独立行走。与喇嘛2缺陷相关的表型已经扩大到包括MILDER和非典型病例，现在统称为喇嘛2相关的肌营养不良（LAMA2-MD）。通过国际多中心协作努力，在86名患者中确定了61名新的喇嘛病相关变异，代表了一份报告中最多的患者和新的疾病导致变种。合作变量集合由Lovd-Powered Lama2 Gene Variant数据库（https://www.lovd.nl/lam2）支持，作为这项工作的一部分更新。截至2017年12月，数据库包含486个独特的喇嘛2种变体（309例疾病相关），从直接提交和文献报告中获得。系统地审查了数据库内容，并提出了关于Lama2-MD的进一步见解。我们专注于畸形变化的影响，尤其是C.2461A？＆？C（P.Thr821Pro）变体及其与后期喇嘛2 -MD的关系。最后，我们报告了诊断挑战性案例，突出了现代遗传分析在临床异质肌疾病表征中的相关性。

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  • 来源
    《Human mutation》 |2018年第10期|共24页
  • 作者

    Oliveira Jorge; Gruber Angela; Cardoso Márcio; Taipa Ricardo; Fineza Isabel; Gon?alves Ana; Laner Andreas; Winder Thomas L.; Schroeder Jocelyn; Rath Julie; Oliveira Márcia E.; Vieira Emília; Sousa Ana Paula; Vieira José Pedro; Louren?o Teresa; Almendra Luciano; Negr?o Luís; Santos Manuela; Melo‐Pires Manuel; Coelho Teresa; den Dunnen Johan T.; Santos Rosário; Sousa Mário;

  • 作者单位

    Unidade de Genética MolecularCentro Hospitalar do PortoPorto Portugal;

    PreventionGeneticsMarshfield Wisconsin;

    Consulta de Doen?as Neuromusculares e Servi?o de NeurofisiologiaCentro Hospitalar do PortoPorto;

    Unidade de NeuropatologiaCentro Hospitalar do PortoPorto Portugal;

    Unidade de NeuropediatriaCentro Hospitalar Universitário de CoimbraCoimbra Portugal;

    Unidade de Genética MolecularCentro Hospitalar do PortoPorto Portugal;

    MGZ ‐ Center of Medical GeneticsMunich Germany;

    Invitae CorporationSan Francisco California;

    PreventionGeneticsMarshfield Wisconsin;

    PreventionGeneticsMarshfield Wisconsin;

    Unidade de Genética MolecularCentro Hospitalar do PortoPorto Portugal;

    Unidade de Genética MolecularCentro Hospitalar do PortoPorto Portugal;

    Consulta de Doen?as Neuromusculares e Servi?o de NeurofisiologiaCentro Hospitalar do PortoPorto;

    Servi?o de NeurologiaCentro Hospitalar de Lisboa CentralLisboa Portugal;

    Servi?o de Genética MédicaCentro Hospitalar de Lisboa CentralLisboa Portugal;

    Consulta de Doen?as NeuromuscularesCentro Hospitalar Universitário de CoimbraCoimbra Portugal;

    Consulta de Doen?as NeuromuscularesCentro Hospitalar Universitário de CoimbraCoimbra Portugal;

    Consulta de Doen?as Neuromusculares e Servi?o de NeuropediatriaCentro Hospitalar do PortoPorto;

    Unidade de NeuropatologiaCentro Hospitalar do PortoPorto Portugal;

    Consulta de Doen?as Neuromusculares e Servi?o de NeurofisiologiaCentro Hospitalar do PortoPorto;

    Departments of Human Genetics and Clinical GeneticsLeiden University Medical CenterLeiden the;

    Unidade de Genética MolecularCentro Hospitalar do PortoPorto Portugal;

    Unidade Multidisciplinar de Investiga??o Biomédica (UMIB)Universidade do PortoPorto Portugal;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 医学遗传学;
  • 关键词

    congenital; LAMA2; laminin‐α2; locus‐specific database; muscular dystrophy; mutation update;

    机译：先天性;喇嘛2;层粘连蛋白α2;特定轨迹数据库;肌营养不良;突变更新;

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