Novel variants broaden the phenotypic spectrum of PLEKHG5‐associated neuropathies
Novel variants broaden the phenotypic spectrum of PLEKHG5‐associated neuropathies
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新的变异拓宽了 PLEKHG5 相关神经病的表型谱
DOI：
10.1111/ene.14649
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发表时间：
2020
影响因子：
5.1
通讯作者：
P. Sarraf
中科院分区：
文献类型：
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作者：
Zhongbo Chen;R. Maroofian;A. N. Basak;Leena Shingavi;Mert Karakaya;S. Efthymiou;Emil K. Gustavsson;Leyla Meier;K. Polavarapu;S. Vengalil;V. Preethish;B. Nandeesh;Nalan Gökçe Güneş;O. Akan;Fatma Candan;B. Schrank;S. Zuchner;D. Murphy;M. Kapoor;M. Ryten;B. Wirth;Mary M. Reilly;A. Nalini;H. Houlden;P. Sarraf
迄今为止，已报告PLEKHG 5的致病性变体是3个常染色体隐性中间型Charcot玛丽-图思病（CMT）不相关家族和1个脊髓性肌萎缩症（SMA）近亲家族的致病性。已知PLEKHG 5在人类外周神经系统中表达，并且先前的研究显示其在突触囊泡的轴突末端自噬中的功能，为其潜在的发病机制提供支持。尽管如此，对疾病的临床和遗传谱的了解有限。
Pathogenic variants in PLEKHG5 have been reported to date to be causative in three unrelated families with autosomal recessive intermediate Charcot‐Marie‐Tooth disease (CMT) and in one consanguineous family with spinal muscular atrophy (SMA). PLEKHG5 is known to be expressed in the human peripheral nervous system, and previous studies have shown its function in axon terminal autophagy of synaptic vesicles, lending support to its underlying pathogenetic mechanism. Despite this, there is limited knowledge of the clinical and genetic spectrum of disease.
影响因子：
16.6
作者：
Lüningschrör P;Binotti B;Dombert B;Heimann P;Perez-Lara A;Slotta C;Thau-Habermann N;R von Collenberg C;Karl F;Damme M;Horowitz A;Maystadt I;Füchtbauer A;Füchtbauer EM;Jablonka S;Blum R;Üçeyler N;Petri S;Kaltschmidt B;Jahn R;Kaltschmidt C;Sendtner M
通讯作者：
Sendtner M