Hereditary spastic paraplegia with simultaneous mutations of Atlastin and Nipa1 genes in one family
- VernacularTitle:遗传性痉挛性截瘫中Atlastin基因和Nipa1基因同时突变一家系分析
- Author:
Lei MING
- Publication Type:Journal Article
- Keywords:
Spastic paraplegia,hereditary;
Pedigree;
Mutation;
GTP Phosphohydrolases;
Membrame proteins
- From:
Chinese Journal of Neurology
2008;41(1):33-36
- CountryChina
- Language:Chinese
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Abstract:
Objective To analyze the simultaneous mutations in Atlastin and Nipa1 gene carried by a family with dominantly inherited HSP.Methods The Atlastin exons and Nipa1 exons were analyzed for the family members by ABI 3100 Genetic Analyzer.Results Genetics analysis revealed that both probands and her daughter were heterozygous for disease-specific missense mutations in both SPG3A/Atlastin(SPG3A P344L)and SPG6/Nipa1 genes(SPG6 T100A).Neither of the proband's parents had the SPG3A/Atlastin mutation.But the proband's father was heterozygous for the SPG6/Nipa1 gene mutation.Conclusion The simuhaneous mutations in both SPG3A/Atlastin and SPG6/Nipa1 are coexistent in the patients of this family.SPG3A/Atlastin is the de novo non-inherited mutation.
