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 : 002132Novel, 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. LynchSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- 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
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 002230
- to stream PubMed, to step Curation: 002230
- to stream PubMed, to step Checkpoint: 002177
Links to Exploration step
pubmed:18464277Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.</title>
<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>
<wicri:noRegion>Pennsylvania 19104-4318</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Frackelton, Edward C" sort="Frackelton, Edward C" uniqKey="Frackelton E" first="Edward C" last="Frackelton">Edward C. Frackelton</name>
</author>
<author><name sortKey="Mccallum, Jennifer" sort="Mccallum, Jennifer" uniqKey="Mccallum J" first="Jennifer" last="Mccallum">Jennifer Mccallum</name>
</author>
<author><name sortKey="Farmer, Jennifer M" sort="Farmer, Jennifer M" uniqKey="Farmer J" first="Jennifer M" last="Farmer">Jennifer M. Farmer</name>
</author>
<author><name sortKey="Tsou, Amy" sort="Tsou, Amy" uniqKey="Tsou A" first="Amy" last="Tsou">Amy Tsou</name>
</author>
<author><name sortKey="Wilson, Robert B" sort="Wilson, Robert B" uniqKey="Wilson R" first="Robert B" last="Wilson">Robert B. Wilson</name>
</author>
<author><name sortKey="Lynch, David R" sort="Lynch, David R" uniqKey="Lynch D" first="David R" last="Lynch">David R. Lynch</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2008">2008</date>
<idno type="doi">10.1002/mds.22012</idno>
<idno type="RBID">pubmed:18464277</idno>
<idno type="pmid">18464277</idno>
<idno type="wicri:Area/PubMed/Corpus">002230</idno>
<idno type="wicri:Area/PubMed/Curation">002230</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002177</idno>
<idno type="wicri:Area/Ncbi/Merge">002131</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.</title>
<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>
<wicri:noRegion>Pennsylvania 19104-4318</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Frackelton, Edward C" sort="Frackelton, Edward C" uniqKey="Frackelton E" first="Edward C" last="Frackelton">Edward C. Frackelton</name>
</author>
<author><name sortKey="Mccallum, Jennifer" sort="Mccallum, Jennifer" uniqKey="Mccallum J" first="Jennifer" last="Mccallum">Jennifer Mccallum</name>
</author>
<author><name sortKey="Farmer, Jennifer M" sort="Farmer, Jennifer M" uniqKey="Farmer J" first="Jennifer M" last="Farmer">Jennifer M. Farmer</name>
</author>
<author><name sortKey="Tsou, Amy" sort="Tsou, Amy" uniqKey="Tsou A" first="Amy" last="Tsou">Amy Tsou</name>
</author>
<author><name sortKey="Wilson, Robert B" sort="Wilson, Robert B" uniqKey="Wilson R" first="Robert B" last="Wilson">Robert B. Wilson</name>
</author>
<author><name sortKey="Lynch, David R" sort="Lynch, David R" uniqKey="Lynch D" first="David R" last="Lynch">David R. Lynch</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2008" type="published">2008</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of Onset</term>
<term>Aged</term>
<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>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term>
<term>Aged</term>
<term>Alleles</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Siblings</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<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>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">18464277</PMID>
<DateCreated><Year>2008</Year>
<Month>08</Month>
<Day>05</Day>
</DateCreated>
<DateCompleted><Year>2009</Year>
<Month>01</Month>
<Day>12</Day>
</DateCompleted>
<Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>23</Volume>
<Issue>9</Issue>
<PubDate><Year>2008</Year>
<Month>Jul</Month>
<Day>15</Day>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.</ArticleTitle>
<Pagination><MedlinePgn>1303-6</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22012</ELocationID>
<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>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Stolle</LastName>
<ForeName>Catherine A</ForeName>
<Initials>CA</Initials>
<AffiliationInfo><Affiliation>The Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104-4318, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Frackelton</LastName>
<ForeName>Edward C</ForeName>
<Initials>EC</Initials>
</Author>
<Author ValidYN="Y"><LastName>McCallum</LastName>
<ForeName>Jennifer</ForeName>
<Initials>J</Initials>
</Author>
<Author ValidYN="Y"><LastName>Farmer</LastName>
<ForeName>Jennifer M</ForeName>
<Initials>JM</Initials>
</Author>
<Author ValidYN="Y"><LastName>Tsou</LastName>
<ForeName>Amy</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y"><LastName>Wilson</LastName>
<ForeName>Robert B</ForeName>
<Initials>RB</Initials>
</Author>
<Author ValidYN="Y"><LastName>Lynch</LastName>
<ForeName>David R</ForeName>
<Initials>DR</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
<PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D033862">Iron-Binding Proteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C098527">frataxin</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017668">Age of Onset</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000483">Alleles</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005621">Friedreich Ataxia</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D033862">Iron-Binding Proteins</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D035781">Siblings</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020080">Tandem Repeat Sequences</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2008</Year>
<Month>5</Month>
<Day>9</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2009</Year>
<Month>1</Month>
<Day>13</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2008</Year>
<Month>5</Month>
<Day>9</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="doi">10.1002/mds.22012</ArticleId>
<ArticleId IdType="pubmed">18464277</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
<affiliations><list><country><li>États-Unis</li>
</country>
</list>
<tree><noCountry><name sortKey="Farmer, Jennifer M" sort="Farmer, Jennifer M" uniqKey="Farmer J" first="Jennifer M" last="Farmer">Jennifer M. Farmer</name>
<name sortKey="Frackelton, Edward C" sort="Frackelton, Edward C" uniqKey="Frackelton E" first="Edward C" last="Frackelton">Edward C. Frackelton</name>
<name sortKey="Lynch, David R" sort="Lynch, David R" uniqKey="Lynch D" first="David R" last="Lynch">David R. Lynch</name>
<name sortKey="Mccallum, Jennifer" sort="Mccallum, Jennifer" uniqKey="Mccallum J" first="Jennifer" last="Mccallum">Jennifer Mccallum</name>
<name sortKey="Tsou, Amy" sort="Tsou, Amy" uniqKey="Tsou A" first="Amy" last="Tsou">Amy Tsou</name>
<name sortKey="Wilson, Robert B" sort="Wilson, Robert B" uniqKey="Wilson R" first="Robert B" last="Wilson">Robert B. Wilson</name>
</noCountry>
<country name="États-Unis"><noRegion><name sortKey="Stolle, Catherine A" sort="Stolle, Catherine A" uniqKey="Stolle C" first="Catherine A" last="Stolle">Catherine A. Stolle</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Merge
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002131 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd -nk 002131 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Ncbi |étape= Merge |type= RBID |clé= pubmed:18464277 |texte= Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/RBID.i -Sk "pubmed:18464277" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
![]() | This area was generated with Dilib version V0.6.23. | ![]() |