Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population

► Mutations in FGF14 gene were screened in 67 unrelated Chinese Han probands with ADCA by DHPLC and DNA direct sequencing. ► We found a pair of siblings carried the same heterozygous variation (c.-10delC) characterized by different clinical features. ► A probable novel insertion/deletion (I/D) polym...

Full description

Saved in:
Bibliographic Details
Published in:Neuroscience letters 2012-06, Vol.520 (1), p.16-19
Main Authors: Chen, Zhao, Li, Xiaohui, Tang, Beisha, Wang, Junling, Shi, Yuting, Sun, Zhanfang, Zhang, Li, Pan, Qian, Xia, Kun, Jiang, Hong
Format: Article
Language:English
Subjects:
5' Untranslated Regions
Adolescent
Adult
Aged
Asian Continental Ancestry Group
Case-Control Studies
Child
China - ethnology
DHPLC
Exons
Female
FGF14
Fibroblast Growth Factors - genetics
Heterozygote
Humans
INDEL Mutation
Male
Middle Aged
Mutation
Pedigree
Polymorphism
SCA27
Siblings
Spinocerebellar Degenerations - ethnology
Spinocerebellar Degenerations - genetics
Young Adult
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:► Mutations in FGF14 gene were screened in 67 unrelated Chinese Han probands with ADCA by DHPLC and DNA direct sequencing. ► We found a pair of siblings carried the same heterozygous variation (c.-10delC) characterized by different clinical features. ► A probable novel insertion/deletion (I/D) polymorphism (c.-10delC) was found. ► It suggests that SCA27 is a rare subtype in China. Autosomal dominant cerebellar ataxias (ADCAs), genetically classified into spinocerebellar ataxias (SCAs), are a highly heterogeneous group of neurodegenerative disorders. Recently, mutations in the fibroblast growth factor 14 gene (FGF14) have been reported to cause SCA27 subtype. To evaluate the frequency of FGF14 mutations in mainland of China, we performed molecular genetic analysis in 67 unrelated familial ataxia cases and 500 normal controls by denaturing high-performance liquid chromatography (DHPLC) and DNA direct sequencing. Interestingly, we found a pair of siblings carried the same heterozygous variation (c.-10delC) characterized by different clinical features, which is probably a novel insertion/deletion (I/D) polymorphism in the 5′UTR region of the exon 1b. It suggests that SCA27 is a rare subtype in China.
ISSN:0304-3940
1872-7972
DOI:10.1016/j.neulet.2012.05.008