MovDisordV3, Ncbi, Merge, bibRecord, 002131

Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.

Identifieur interne : 002131 ( Ncbi/Merge ); précédent : 002130; suivant : 002132

Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.

Auteurs : Catherine A. Stolle [États-Unis] ; Edward C. Frackelton ; Jennifer Mccallum ; Jennifer M. Farmer ; Amy Tsou ; Robert B. Wilson ; David R. Lynch

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.

RBID : pubmed:18464277

English descriptors

KwdEn :
- Age of Onset, Aged, Alleles, Female, Friedreich Ataxia (genetics), Genotype, Humans, Iron-Binding Proteins (genetics), Male, Middle Aged, Mutation (genetics), Siblings, Tandem Repeat Sequences (genetics).
MESH :
- chemical , genetics : Iron-Binding Proteins.
- genetics : Friedreich Ataxia, Mutation, Tandem Repeat Sequences.
- Age of Onset, Aged, Alleles, Female, Genotype, Humans, Male, Middle Aged, Siblings.

Abstract

Friedreich ataxia (FA) is an autosomal recessive disorder associated with expanded GAA repeats in intron 1 of the FRDA gene. Two siblings presented with a mild form of FA at >60 years of age. Both had a large expansion (>600 repeats) and a small expansion (120 repeats) by long-range PCR. Sequence analysis of the small allele revealed multiple, complex interruptions in the GAA repeat. These 2 patients presented later than predicted from their allele size alone, when compared with a large cohort of FA patients. Accounting for the interruptions in the GAA repeat, though, did not make the age of onset consistent with that noted in other patients. Three additional patients with late onset FA and small expanded alleles also exhibited interrupted GAA repeats that were not associated with inappropriately late onset. Our observations suggest that interrupted GAA repeats do not clearly impact the age of onset in FA.

DOI: 10.1002/mds.22012
PubMed: 18464277

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Le document en format XML

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<author><name sortKey="Stolle, Catherine A" sort="Stolle, Catherine A" uniqKey="Stolle C" first="Catherine A" last="Stolle">Catherine A. Stolle</name>
<affiliation wicri:level="1"><nlm:affiliation>The Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104-4318, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>The Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104-4318</wicri:regionArea>
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<author><name sortKey="Frackelton, Edward C" sort="Frackelton, Edward C" uniqKey="Frackelton E" first="Edward C" last="Frackelton">Edward C. Frackelton</name>
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<author><name sortKey="Mccallum, Jennifer" sort="Mccallum, Jennifer" uniqKey="Mccallum J" first="Jennifer" last="Mccallum">Jennifer Mccallum</name>
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<author><name sortKey="Farmer, Jennifer M" sort="Farmer, Jennifer M" uniqKey="Farmer J" first="Jennifer M" last="Farmer">Jennifer M. Farmer</name>
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<author><name sortKey="Tsou, Amy" sort="Tsou, Amy" uniqKey="Tsou A" first="Amy" last="Tsou">Amy Tsou</name>
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<author><name sortKey="Wilson, Robert B" sort="Wilson, Robert B" uniqKey="Wilson R" first="Robert B" last="Wilson">Robert B. Wilson</name>
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<author><name sortKey="Lynch, David R" sort="Lynch, David R" uniqKey="Lynch D" first="David R" last="Lynch">David R. Lynch</name>
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<author><name sortKey="Frackelton, Edward C" sort="Frackelton, Edward C" uniqKey="Frackelton E" first="Edward C" last="Frackelton">Edward C. Frackelton</name>
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<term>Alleles</term>
<term>Female</term>
<term>Friedreich Ataxia (genetics)</term>
<term>Genotype</term>
<term>Humans</term>
<term>Iron-Binding Proteins (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Siblings</term>
<term>Tandem Repeat Sequences (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Iron-Binding Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Friedreich Ataxia</term>
<term>Mutation</term>
<term>Tandem Repeat Sequences</term>
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<term>Aged</term>
<term>Alleles</term>
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<front><div type="abstract" xml:lang="en">Friedreich ataxia (FA) is an autosomal recessive disorder associated with expanded GAA repeats in intron 1 of the FRDA gene. Two siblings presented with a mild form of FA at >60 years of age. Both had a large expansion (>600 repeats) and a small expansion (120 repeats) by long-range PCR. Sequence analysis of the small allele revealed multiple, complex interruptions in the GAA repeat. These 2 patients presented later than predicted from their allele size alone, when compared with a large cohort of FA patients. Accounting for the interruptions in the GAA repeat, though, did not make the age of onset consistent with that noted in other patients. Three additional patients with late onset FA and small expanded alleles also exhibited interrupted GAA repeats that were not associated with inappropriately late onset. Our observations suggest that interrupted GAA repeats do not clearly impact the age of onset in FA.</div>
</front>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<Abstract><AbstractText>Friedreich ataxia (FA) is an autosomal recessive disorder associated with expanded GAA repeats in intron 1 of the FRDA gene. Two siblings presented with a mild form of FA at >60 years of age. Both had a large expansion (>600 repeats) and a small expansion (120 repeats) by long-range PCR. Sequence analysis of the small allele revealed multiple, complex interruptions in the GAA repeat. These 2 patients presented later than predicted from their allele size alone, when compared with a large cohort of FA patients. Accounting for the interruptions in the GAA repeat, though, did not make the age of onset consistent with that noted in other patients. Three additional patients with late onset FA and small expanded alleles also exhibited interrupted GAA repeats that were not associated with inappropriately late onset. Our observations suggest that interrupted GAA repeats do not clearly impact the age of onset in FA.</AbstractText>
<CopyrightInformation>(c) 2008 Movement Disorder Society.</CopyrightInformation>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.

Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki