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首页> 外文期刊>Case Reports in Genetics >Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene
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Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene

机译：外显子组测序：由于FAM134B基因突变而致残的感觉神经病伴痉挛性截瘫

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摘要

Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders involving various sensory and autonomic dysfunctions. The most common symptoms of HSANs include loss of sensations of pain and temperature that frequently lead to chronic ulcerations in the feet and hands of the patient. In this case study, we present the clinical features and genetic characteristics of two affected individuals from two unrelated Saudi families presenting mutilating sensory loss and spastic paraplegia. We employed homozygosity mapping and exome sequencing which is an efficient strategy to characterize the recessive genes, thus obtaining a rapid molecular diagnosis for genetically heterogeneous disorders like HSAN. Subsequently, a nonsense mutation (c.926 CG; p.S309) in FAM134B was identified. In addition, we confirmed that the mutant FAM134B transcripts were reduced in these patients presumably disrupting the receptors of the degradative endoplasmic reticulum pathways that facilitate the autophagy processes.
机译：遗传性感觉和自主神经病（HSAN）是临床和遗传上异质的一组疾病，涉及各种感觉和自主神经功能障碍。 HSAN的最常见症状包括疼痛感和温度感丧失，经常导致患者脚和手的慢性溃疡。在本案例研究中，我们介绍了来自两个不相关的沙特家庭的两个受影响个体的临床特征和遗传特征，这些个体表现出残缺的感觉丧失和痉挛性截瘫。我们采用纯合性作图和外显子组测序是表征隐性基因的有效策略，从而获得了对遗传异质性疾病（如HSAN）的快速分子诊断。随后，在FAM134B中鉴定出无意义的突变（c.926 C> G; p.S309）。此外，我们证实，在这些患者中，突变的FAM134B转录物减少了，可能是破坏了促进自噬过程的降解内质网通路的受体。

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