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A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene
Human Genome Variation Pub Date : 2021-05-25 , DOI: 10.1038/s41439-021-00153-x
Takuya Morikawa 1 , Shiroh Miura 2 , Takahisa Tateishi 3 , Kazuhito Noda 4 , Hiroki Shibata 1
Affiliation  

Spastic paraplegia (SPG) type 4 is an autosomal dominant SPG caused by functional variants in the SPAST gene. We examined a Japanese family with three autosomal dominant SPG patients. These patients presented with typical symptoms of SPG, such as spasticity of the lower limbs. We identified a rare nonsynonymous variant, NM_014946.4:c.1252G>A [p.Glu418Lys], in all three family members. This variant has previously been reported in a Russian SPG family as a “likely pathogenic” variant.5 Ascertainment of additional patients carrying this variant in an unrelated Japanese SPG family further supports its pathogenicity. Molecular diagnosis of SPG4 in this family with hereditary spastic paraplegia is confirmed.



中文翻译:

一个日本遗传性痉挛性截瘫家族,在 SPAST 基因中有一个罕见的非同义变异

痉挛性截瘫 (SPG) 4 型是由SPAST基因中的功能变异引起的常染色体显性 SPG 。我们检查了一个有三名常染色体显性 SPG 患者的日本家庭。这些患者表现出典型的 SPG 症状,例如下肢痉挛。我们在所有三个家族成员中发现了一个罕见的非同义变体 NM_014946.4:c.1252G>A [p.Glu418Lys]。该变体先前已在俄罗斯 SPG 家族中被报道为“可能致病”的变体。5 确认在一个不相关的日本 SPG 家族中携带这种变异的其他患者进一步支持了它的致病性。该家族遗传性痉挛性截瘫的SPG4分子诊断得到证实。

更新日期:2021-05-25
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