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学科主题: 临床医学
题名:
INF2 mutations associated with dominant inherited intermediate Charcot-Marie-Tooth neuropathy with focal segmental glomerulosclerosis in two Chinese patients
作者: 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
发表日期: 2015-09-01
DOI: 10.5414/NP300835
卷: 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
所属项目编号: 2011ZX09307-001-07
项目资助者: Ministry of Science and Technology of China
WOS记录号: WOS:000361855600005
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/60104
Appears in Collections:北京大学第一临床医学院_神经内科_期刊论文

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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

Recommended Citation:
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.
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