Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2

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Standard

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2. / Vinther-Jensen, Tua; Ek, Jakob; Duno, Morten; Skovby, Flemming; Hjermind, Lena E; Nielsen, Jørgen E; Nielsen, Troels Tolstrup.

I: European Journal of Human Genetics, Bind 21, Nr. 6, 2013, s. 626-9.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Vinther-Jensen, T, Ek, J, Duno, M, Skovby, F, Hjermind, LE, Nielsen, JE & Nielsen, TT 2013, 'Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2', European Journal of Human Genetics, bind 21, nr. 6, s. 626-9. https://doi.org/10.1038/ejhg.2012.231

APA

Vinther-Jensen, T., Ek, J., Duno, M., Skovby, F., Hjermind, L. E., Nielsen, J. E., & Nielsen, T. T. (2013). Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2. European Journal of Human Genetics, 21(6), 626-9. https://doi.org/10.1038/ejhg.2012.231

Vancouver

Vinther-Jensen T, Ek J, Duno M, Skovby F, Hjermind LE, Nielsen JE o.a. Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2. European Journal of Human Genetics. 2013;21(6):626-9. https://doi.org/10.1038/ejhg.2012.231

Author

Vinther-Jensen, Tua ; Ek, Jakob ; Duno, Morten ; Skovby, Flemming ; Hjermind, Lena E ; Nielsen, Jørgen E ; Nielsen, Troels Tolstrup. / Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2. I: European Journal of Human Genetics. 2013 ; Bind 21, Nr. 6. s. 626-9.

Bibtex

@article{f4996d1e150e468ab9bb6c027e5af23e,
title = "Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2",
abstract = "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.European Journal of Human Genetics advance online publication, 10 October 2012; doi:10.1038/ejhg.2012.231.",
author = "Tua Vinther-Jensen and Jakob Ek and Morten Duno and Flemming Skovby and Hjermind, {Lena E} and Nielsen, {J{\o}rgen E} and Nielsen, {Troels Tolstrup}",
year = "2013",
doi = "10.1038/ejhg.2012.231",
language = "English",
volume = "21",
pages = "626--9",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "nature publishing group",
number = "6",

}

RIS

TY - JOUR

T1 - Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2

AU - Vinther-Jensen, Tua

AU - Ek, Jakob

AU - Duno, Morten

AU - Skovby, Flemming

AU - Hjermind, Lena E

AU - Nielsen, Jørgen E

AU - Nielsen, Troels Tolstrup

PY - 2013

Y1 - 2013

N2 - 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.European Journal of Human Genetics advance online publication, 10 October 2012; doi:10.1038/ejhg.2012.231.

AB - 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.European Journal of Human Genetics advance online publication, 10 October 2012; doi:10.1038/ejhg.2012.231.

U2 - 10.1038/ejhg.2012.231

DO - 10.1038/ejhg.2012.231

M3 - Journal article

C2 - 23047744

VL - 21

SP - 626

EP - 629

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 6

ER -

ID: 46089406