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J Neurol Sci. 2015 Oct 15;357(1-2):35-40. doi: 10.1016/j.jns.2015.06.056. Epub 2015 Jun 27.
2
An ARHGEF10 deletion is highly associated with a juvenile-onset inherited polyneuropathy in Leonberger and Saint Bernard dogs.ARHGEF10基因缺失与莱昂贝格犬和圣伯纳犬的幼年起病遗传性多发性神经病高度相关。
PLoS Genet. 2014 Oct 2;10(10):e1004635. doi: 10.1371/journal.pgen.1004635. eCollection 2014 Oct.
3
Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy.对中毒性多发性神经病中的夏科-马里-图什病基因进行测序。
Ann Neurol. 2014 Nov;76(5):727-37. doi: 10.1002/ana.24265. Epub 2014 Sep 17.
4
Bilateral, localized orbital neurofibromas and Charcot-Marie-Tooth disease.双侧局限性眼眶神经纤维瘤和夏科-马里-图斯病。
Arch Ophthalmol. 2005 Oct;123(10):1443-5. doi: 10.1001/archopht.123.10.1443.
5
Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10.与突变型rho鸟嘌呤核苷酸交换因子10相关的外周神经传导减慢和髓鞘变薄。
Am J Hum Genet. 2003 Oct;73(4):926-32. doi: 10.1086/378159. Epub 2003 Aug 19.

ARHGEF-10 基因突变致眼眶炎性综合征

ARHGEF-10 gene mutation presenting as orbital inflammatory syndrome.

机构信息

Veterans Affairs Boston Healthcare System, Jamaica Plain, Massachusetts, USA

Department of Ophthalmology, Boston University School of Medicine, Boston, MA, USA.

出版信息

BMJ Case Rep. 2022 Mar 8;15(3):e245475. doi: 10.1136/bcr-2021-245475.

DOI:10.1136/bcr-2021-245475
PMID:35260397
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8905991/
Abstract

Rho guanine nucleotide exchange factor 10 (ARHGEF-10) is a RHO GTPase that has a role for neural morphogenesis, however its effect on the eyes remains unknown. Here, we report a 44-year-old man who presented with eyelid swelling along with a history of bilateral hand contractures, high-arched feet and muscle wasting, who was found to have an ARHGEF-10 mutation. Neuroimaging was significant for numerous nerve-based cystic abnormalities in the bilateral orbits and throughout the neuraxis, and an orbital biopsy revealed S-100 and SOX-10 positive lesion consistent with pseudocysts. While the role of ARHGEF-10 remains unclear, further research is warranted to further describe its clinical manifestations.

摘要

Rho 鸟苷酸交换因子 10（ARHGEF-10）是一种 RHO GTPase，在神经形态发生中具有作用，但其对眼睛的影响尚不清楚。在这里，我们报告了一名 44 岁的男性，他表现为眼睑肿胀，并有双侧手部挛缩、高拱形足和肌肉萎缩的病史，发现他存在 ARHGEF-10 突变。神经影像学显示双侧眼眶和整个中枢神经系统存在大量神经源性囊性异常，眼眶活检显示 S-100 和 SOX-10 阳性病变，符合假性囊肿。虽然 ARHGEF-10 的作用尚不清楚，但需要进一步研究以进一步描述其临床表现。