Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing.,Molecular Genetics & Genomic Medicine

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Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-04-26 , DOI: 10.1002/mgg3.1238
Ivana Jedličková ₁ , Anna Přistoupilová ₁ , Lenka Nosková ₁ , Filip Majer ₁ , Viktor Stránecký ₁ , Hana Hartmannová ₁ , Kateřina Hodaňová ₁ , Helena Trešlová ₁ , Michaela Hýblová ₂ , Peter Solár ₃ , Gabriel Minárik ₂ , Mária Giertlová ₂ , Stanislav Kmoch ₁

Affiliation

Spinal muscular atrophy (SMA) is an inherited neuromuscular disease affecting 1 in 8,000 newborns. The majority of patients carry bi‐allelic variants in the survival of motor neuron 1 gene (SMN1 ). SMN1 is located in a duplicated region on chromosome 5q13 that contains Alu elements and is predisposed to genomic rearrangements. Due to the genomic complexity of the SMN region and genetic heterogeneity, approximately 50% of SMA patients remain without genetic diagnosis that is a prerequisite for genetic treatments. In this work we describe the diagnostic odyssey of one SMA patient in whom routine diagnostics identified only a maternal heterozygous SMN1Δ(7–8) deletion.

中文翻译：

常规遗传学检测无法检测到SMN1中新的Alu介导的外显子2a-5缺失引起的脊髓性肌萎缩。

脊髓性肌萎缩症（SMA）是一种遗传性神经肌肉疾病，影响8,000名新生儿中的1名。大多数患者在运动神经元1基因（SMN1）的存活中带有双等位基因变异。SMN1位于染色体5q13上的一个重复区域中，该区域包含Alu元素，并且容易发生基因组重排。由于SMN地区的基因组复杂性和遗传异质性，大约50％的SMA患者没有进行遗传诊断，而遗传诊断是遗传治疗的先决条件。在这项工作中，我们描述了一名SMA患者的诊断经历，其中常规诊断仅发现了母体杂合SMN1Δ（7-8）缺失。

更新日期：2020-04-26

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