title: Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population.
abstract: 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.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China.
authors.forename: Zhao
authors.initials: Z
authors.lastname: Chen
authors.forename: Xiaohui
authors.initials: X
authors.lastname: Li
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
authors.forename: Junling
authors.initials: J
authors.lastname: Wang
authors.forename: Yuting
authors.initials: Y
authors.lastname: Shi
authors.forename: Zhanfang
authors.initials: Z
authors.lastname: Sun
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
mesh_terms: D020121:5' Untranslated Regions; D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People; D016022:Case-Control Studies; D002648:Child; D002681:China / Q000208:ethnology; D005091:Exons; D005260:Female; D005346:Fibroblast Growth Factors / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D054643:INDEL Mutation; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D035781:Siblings; D013132:Spinocerebellar Degenerations / Q000208:ethnology / Q000235:genetics*; D055815:Young Adult
chemical_list: D020121:5' Untranslated Regions; C112971:fibroblast growth factor 14; D005346:Fibroblast Growth Factors