A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy
A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy
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早发性痉挛性截瘫和晚发性感觉运动性多发性神经病患者中 TFG 基因的新纯合突变
DOI：
10.1038/s10038-018-0538-4
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发表时间：
2019
期刊：
影响因子：
3.5
通讯作者：
Haginoya K
中科院分区：
文献类型：
--
作者：
Miyabayashi T;Ochiai T;Suzuki N;Aoki M;Inui T;Okubo Y;Sato R;Togashi N;Takashima H;Ishiura H;Tsuji S;Koh K;Takiyama Y;Haginoya K
原肌球蛋白受体激酶融合基因（TFG）最近与几种不同的遗传性疾病有关，包括常染色体隐性形式的复杂遗传性痉挛性截瘫，称为SPG57。此前，在5个SPG57家族中报道了tfg基因的3个纯合变异，其中早发性痉挛性截瘫、视神经萎缩和周围神经病变被不同地鉴定出来。在这里，我们提出了第一个日本SPG57患者，并添加了一个纯合子p.i ile66thr变体作为SPG57的第四个基因型。
Thetropomyosin-receptor kinase fused gene(TFG) has recently been implicated in several distinct hereditary disorders, including the autosomal-recessive form of complicated hereditary spastic paraplegia called SPG57. Previously, three homozygous variants of theTFGgene were reported in five families with SPG57, in which early onset spastic paraplegia, optic atrophy, and peripheral neuropathy were variably identified. Here, we present the first Japanese patient with SPG57, and have added a homozygous p.Ile66Thr variant as the fourth SPG57 genotype.
影响因子：
3.9
作者：
Harlalka, Gaurav V.;McEntagart, Meriel E.;Crosby, Andrew H.
通讯作者：
Crosby, Andrew H.
影响因子：
2.2
作者：
Tariq, Huma;Naz, Sadaf
通讯作者：
Naz, Sadaf
影响因子：
4.4
作者：
Khani, Marzieh;Shamshiri, Hosein;Elahi, Elahe
通讯作者：
Elahi, Elahe