Filaminopathy caused by a novel deletion-insertion mutation in filamin C gene
10.3760/cma.j.issn.1006-7876.2009.11.013
- VernacularTitle:细丝蛋白C肌病基因存在新的插入缺失突变
- Author:
Daojun HONG
;
Xinghua LUAN
;
Riliang ZHENG
;
Wei ZHANG
;
Yun YUAN
- Publication Type:Journal Article
- Keywords:
Muscular diseases;
Contractile proteins;
Microfilament proteins;
Gene deletion;
Mutation
- From:
Chinese Journal of Neurology
2009;42(11):758-761
- CountryChina
- Language:Chinese
-
Abstract:
Objective To report filaminopathy with novel insertion mutation in a Chinese family.Methods Total 19 patients from successive 5 generations involved in an autosomal dominant family. The detailed clinical manifestations had been described (Chinese Journal of Neurology, 2008, 41:751-755).The filamin C gene sequencing was performed in 3 patients, 5 family members without symptoms and 50 normal persons. The amplified fragments of the exon 18 in filamin C gene were cloned into pBluesripts vectors, then sequenced and identified with capillary electrophoresis. Results 18-nucleotide deletion and 6-nucleotide insertion were identified in the exon 18 of filamin C gene. The mutation caused the disturbance of the seventh immunoglobulin-like domain in filamin C, leading to the instability of dimmers of filamin C.Another 2 patients in the family had same mutation while 5 family members without symptoms and 50 normal controls were normal. Conclusion The novel nucleotide deletion-insertion in exon 18 of filamin C gene causes filaminopathy. This disease can appear in non-Nordic race.
