A spinocerebellar ataxia family with expanded alleles in the TATA-binding protein gene and ataxin-3 gene.
We report on a Chinese family with three members who have CAG repeat expansion in the ataxin-3, two members present with expanded trinucleotide repeat in both the ataxin-3 and tata-binding protein (TBP) and an individual who carries expanded CAG/CAA repeat in the TBP. Only the patients who carry an allele with expansion in the ataxin-3 gene presented with clinical symptoms. This interesting family presents a unique mutation state. We will continue to track this family in the future, which may help us further elucidate the pathogenic mechanism of spinocerebellar ataxia (SCA) type 3 and 17. The study also provides us a novel conception that mutations from two pathogenetic genes may coexist in one patient and SCA-affected patients with intermediate allele need to be further excluded for other SCA subtypes.
Xu
Qian
Q
Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Li
Qinghua
Q
Wang
Junling
J
Jiang
Hong
H
Shen
Lu
L
Li
Xiaohui
X
Tang
Beisha
B
D000368:Aged; D000483:Alleles; D000067699:Ataxin-3; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D017827:Machado-Joseph Disease / Q000235:genetics; D008297:Male; D009154:Mutation / Q000502:physiology; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D012091:Repetitive Sequences, Nucleic Acid; D012097:Repressor Proteins / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000235:genetics*; D035181:TATA-Box Binding Protein / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; D035181:TATA-Box Binding Protein; D004247:DNA; C092341:ATXN3 protein, human; D000067699:Ataxin-3