A new case of spastic paraplegia type 64 due to a missense mutation in the ENTPD1 gene.,Human Genome Variation

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A new case of spastic paraplegia type 64 due to a missense mutation in the ENTPD1 gene.
Human Genome Variation ( IF 1.0 ) Pub Date : 2019-01-11 , DOI: 10.1038/s41439-018-0036-4
Jean Mamelona ₁ , Nicolas Crapoulet _{2,

3} , Alier Marrero _{1,

2}

Affiliation

Spastic paraplegia type 64 (SPG64; OMIM 615683) is a complicated form of hereditary spastic paraplegia (HSP) recently identified in individuals diagnosed with suspected neurodegenerative disease. Affected patients carry homozygous mutations in the ectonucleoside triphosphate diphosphohydrolase 1 gene (ENTPD1). Although they share common characteristics, affected individuals show slight discrepancies in some clinical aspects. At present, only two different cases of SPG64 have been diagnosed. More findings of genetic variation would be helpful to better understand the effect of mutations in the ENTPD1 gene on the neurological condition of affected individuals. In this study, we examined a family with an individual diagnosed with suspected HSP based on clinical findings. DNA samples from the proband, her affected sister, and both parents were analyzed using next-generation sequencing. We used an in-house automated pipeline to detect potential neuromuscular disease-causing variants. Variants were confirmed by Sanger sequencing. After cosegregation analysis, the variant NM_001776.5:c.401T>G (p.M134R) of the ENTPD1 gene was identified as a novel missense mutation linked to the phenotype of SPG64 in the proband and her sister, who showed similar and distinct clinical features compared with the two cases previously described in the literature.

中文翻译：

由于ENTPD1基因的错义突变而导致的新一例痉挛性截瘫，类型为64。

64型痉挛性截瘫（SPG64; OMIM 615683）是最近在诊断为可疑神经退行性疾病的个体中发现的遗传性痉挛性截瘫（HSP）的一种复杂形式。受影响的患者在外核苷三磷酸二磷酸水解酶1基因（ENTPD1）中携带纯合突变。尽管它们具有共同的特征，但受影响的个体在某些临床方面显示出轻微差异。目前，仅诊断出两种不同的SPG64病例。遗传变异的更多发现将有助于更好地了解ENTPD1基因突变对受影响个体神经系统状况的影响。在这项研究中，我们根据临床发现检查了一个被诊断患有疑似HSP的家庭。先证者，受感染的妹妹的DNA样本，并使用下一代测序技术对父母双方进行了分析。我们使用内部自动流水线来检测可能引起神经肌肉疾病的变体。通过Sanger测序证实了变体。经过共偏析分析，ENTPD1基因的变体NM_001776.5：c.401T> G（p.M134R）被鉴定为与先证者及其姐姐中SPG64表型相关的新型错义突变，其临床表现相似且截然不同与先前文献中描述的两种情况相比，其功能更胜一筹。

更新日期：2019-11-18

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