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INF2 mutations associated with dominant inherited intermediate Charcot-Marie-Tooth neuropathy with focal segmental glomerulosclerosis in two Chinese patients
Jin, Suqin1; Wang, Wei2; Wang, Renbin2; Lv, He1; Zhang, Wei1; Wang, Zhaoxia1; Jiao, Jinsong2; Yuan, Yun1
关键词Inf2 Dominant Inherited Intermediate Charcot-marie-tooth Neuropathy Focal Segmental Glomerulosclerosis
刊名CLINICAL NEUROPATHOLOGY
2015-09-01
DOI10.5414/NP300835
34期:5页:275-281
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology ; Pathology
研究领域[WOS]Neurosciences & Neurology ; Pathology
关键词[WOS]DISEASE ; FORMIN ; GLOMERULOPATHY ; FAMILY ; POLYMERIZATION
英文摘要

Recently, mutations in the inverted formin 2 (INF2) gene have been in-dentified in patients with dominant inherited intermediate Charcot-Marie-Tooth neuropathy (DI-CMT) with focal segmental glomerulosclerosis (FSGS). We report clinical and nerve pathological changes in two Chinese patients. Case 1 is 27 years old and presented with distal muscle weakness and atrophy of legs at the age of 13 and renal failure at the age of 26. Three of his family members died due to pure renal failure. Case 2 is 22 years old and presented with distal muscle weakness and atrophy of the legs with transient attacks of difficulty in speaking at age 17. Proteinuria was found by routine urine test at the same time. Sural nerve biopsy revealed moderate-to-severe loss of myelinated fibers, with union bulbs and regeneration clusters in both patients. Ultrastructurally, numerous elongated extensions of Schwann cells of unmyelinated fibers could be seen in both patients. INF2 gene mutation screening revealed c.451 T>C in case 1 and c.341 G>A in case 2. This is the first report of Chinese patients with INF2-related DI-CMT. The c.451 T>C mutant was responsible for both isolated FSGS and a dual phenotype of FSGS and neuropathy within one family. Intrafamilial variability can be found with the same INF2 mutation. The CNS manifestations further broadened the clinical spectrum of INF2-associated disorders.

语种英语
WOS记录号WOS:000361855600005
项目编号2011ZX09307-001-07
资助机构Ministry of Science and Technology of China
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被引频次:3[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/60104
专题北京大学第一临床医学院_神经内科
作者单位1.Peking Univ, Hosp 1, Dept Neurol, Beijing 100034, Peoples R China
2.China Japanese Friendship Hosp, Dept Neurol, Beijing, Peoples R China
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GB/T 7714
Jin, Suqin,Wang, Wei,Wang, Renbin,et al. INF2 mutations associated with dominant inherited intermediate Charcot-Marie-Tooth neuropathy with focal segmental glomerulosclerosis in two Chinese patients[J]. CLINICAL NEUROPATHOLOGY,2015,34(5):275-281.
APA Jin, Suqin.,Wang, Wei.,Wang, Renbin.,Lv, He.,Zhang, Wei.,...&Yuan, Yun.(2015).INF2 mutations associated with dominant inherited intermediate Charcot-Marie-Tooth neuropathy with focal segmental glomerulosclerosis in two Chinese patients.CLINICAL NEUROPATHOLOGY,34(5),275-281.
MLA Jin, Suqin,et al."INF2 mutations associated with dominant inherited intermediate Charcot-Marie-Tooth neuropathy with focal segmental glomerulosclerosis in two Chinese patients".CLINICAL NEUROPATHOLOGY 34.5(2015):275-281.
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