| Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2. | |
MedLine Citation:
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PMID: 23047744 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
Authors:
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Tua Vinther-Jensen; Jakob Ek; Morten Duno; Flemming Skovby; Lena E Hjermind; Jørgen E Nielsen; Troels Tolstrup Nielsen |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2012-10-10 |
Journal Detail:
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Title: European journal of human genetics : EJHG Volume: 21 ISSN: 1476-5438 ISO Abbreviation: Eur. J. Hum. Genet. Publication Date: 2013 Jun |
Date Detail:
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Created Date: 2013-05-16 Completed Date: 2013-10-21 Revised Date: 2014-06-03 |
Medline Journal Info:
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Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: England |
Other Details:
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Languages: eng Pagination: 626-9 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Child, Preschool DNA Mutational Analysis Female Genomic Instability / genetics* Germ Cells / metabolism* Humans Infant Magnetic Resonance Imaging Male Middle Aged Nerve Tissue Proteins / genetics Pedigree Single-Cell Analysis Spermatozoa / metabolism Spinocerebellar Ataxias / genetics* Spinocerebellar Degenerations / genetics* Trinucleotide Repeat Expansion / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Nerve Tissue Proteins; 0/SCA2 protein |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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