Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
Authors:
- 1 October 2000
- journal article
- case report
- Published by Springer Nature in Nature Genetics
- Vol. 26 (2) , 191-194
Abstract
Spinocerebellar ataxia type 10 (SCA10; MIM 603516; refs 1,2) is an autosomal dominant disorder characterized by cerebellar ataxia and seizures. The gene SCA10 maps to a 3.8-cM interval on human chromosome 22q13–qter (refs 1,2). Because several other SCA subtypes show trinucleotide repeat expansions, we examined microsatellites in this region. We found an expansion of a pentanucleotide (ATTCT) repeat in intron 9 of SCA10 in all patients in five Mexican SCA10 families. There was an inverse correlation between the expansion size, up to 22.5 kb larger than the normal allele, and the age of onset (r2=0.34, P=0.018). Analysis of 562 chromosomes from unaffected individuals of various ethnic origins (including 242 chromosomes from Mexican persons) showed a range of 10 to 22 ATTCT repeats with no evidence of expansions. Our data indicate that the new SCA10 intronic ATTCT pentanucleotide repeat in SCA10 patients is unstable and represents the largest microsatellite expansion found so far in the human genome.Keywords
This publication has 18 references indexed in Scilit:
- Mapping of a New Autosomal Dominant Spinocerebellar Ataxia to Chromosome 22The American Journal of Human Genetics, 1999
- A Novel Long and Unstable CAG/CTG Trinucleotide Repeat on Chromosome 17qGenomics, 1998
- Rapid cloning of expanded trinucleotide repeat sequences from genomic DNANature Genetics, 1998
- A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1Human Molecular Genetics, 1997
- Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansionNature Genetics, 1997
- Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channelNature Genetics, 1997
- Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeatsNature Genetics, 1996
- Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECTNature Genetics, 1996
- Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2Nature Genetics, 1996
- Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxiasNature, 1995