Document Detail

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.
MedLine Citation:
PMID:  23047744     Owner:  NLM     Status:  MEDLINE    
The spinocerebellar ataxias (SCA) are a genetically and clinically heterogeneous group of diseases, characterized by dominant inheritance, progressive cerebellar ataxia and diverse extracerebellar symptoms. A subgroup of the ataxias is caused by unstable CAG-repeat expansions in their respective genes leading to pathogenic expansions of polyglutamine stretches in the encoded proteins. In general, unstable CAG repeats have an uninterrupted CAG repeat, whereas stable CAG repeats are either short or interrupted by CAA codons, which - like CAG codons - code for glutamine. Here we report on an infantile SCA2 patient who, due to germ-line CAG repeat instability in her father, inherited an extremely expanded CAG repeat in the SCA2 locus. Surprisingly, the expanded allele of the father was an interrupted CAG repeat sequence. Furthermore, analyses of single spermatozoa showed a high frequency of paternal germ-line repeat sequence instability of the expanded SCA2 locus.
Tua Vinther-Jensen; Jakob Ek; Morten Duno; Flemming Skovby; Lena E Hjermind; Jørgen E Nielsen; Troels Tolstrup Nielsen
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2012-10-10
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  21     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2013 Jun 
Date Detail:
Created Date:  2013-05-16     Completed Date:  2013-10-21     Revised Date:  2014-06-03    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  626-9     Citation Subset:  IM    
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MeSH Terms
Child, Preschool
DNA Mutational Analysis
Genomic Instability / genetics*
Germ Cells / metabolism*
Magnetic Resonance Imaging
Middle Aged
Nerve Tissue Proteins / genetics
Single-Cell Analysis
Spermatozoa / metabolism
Spinocerebellar Ataxias / genetics*
Spinocerebellar Degenerations / genetics*
Trinucleotide Repeat Expansion / genetics*
Reg. No./Substance:
0/Nerve Tissue Proteins; 0/SCA2 protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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