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Article: Repeat Instability in the 27-39 CAG Range of the HD Gene in the Venezuelan Kindreds: Counseling Implications

TitleRepeat Instability in the 27-39 CAG Range of the HD Gene in the Venezuelan Kindreds: Counseling Implications
Authors
KeywordsGenetic counseling
Huntington's disease
Trinucleotide repeat
Issue Date2009
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www.interscience.wiley.com/jpages/0148-7299:1
Citation
American Journal Of Medical Genetics, Part B: Neuropsychiatric Genetics, 2009, v. 150 n. 3, p. 425-429 How to Cite?
AbstractThe instability of the CAG repeat size of the HD gene when transmitted intergenerationally has critical implications for genetic counseling practices. In particular, CAG repeats between 27 and 35 have been the subject of debate based on small samples. To address this issue, we analyzed allelic instability in the Venezuelan HD kindreds, the largest and most informative families ascertained for HD. We identified 647 transmissions. Our results indicate that repeats in the 27-35 CAG range are highly stable. Out of 69 transmitted alleles in this range, none expand into any penetrant ranges. Contrastingly, 14% of alleles transmitted from the incompletely penetrant range (36-39 CAGs) expand into the completely penetrant range, characterized by alleles with 40 or more CAG repeats. At least 12 of the 534 transmissions from the completely penetrant range contract into the incompletely penetrant range of 36-39 CAG repeats. In these kindreds, none of the individuals with 27-39 CAGs were symptomatic, even though they ranged in age from 11 to 82 years. We expect these findings to be helpful in updating genetic counseling practices. © 2008 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/59737
ISSN
2015 SCImago Journal Rankings: 1.771
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorBrocklebank, Den_HK
dc.contributor.authorGayán, Jen_HK
dc.contributor.authorAndresen, JMen_HK
dc.contributor.authorRoberts, SAen_HK
dc.contributor.authorYoung, ABen_HK
dc.contributor.authorSnodgrass, SRen_HK
dc.contributor.authorPenney, JBen_HK
dc.contributor.authorRamosArroyo, MAen_HK
dc.contributor.authorCha, JJen_HK
dc.contributor.authorRosas, HDen_HK
dc.contributor.authorHersch, SMen_HK
dc.contributor.authorFeigin, Aen_HK
dc.contributor.authorCherny, SSen_HK
dc.contributor.authorWexler, NSen_HK
dc.contributor.authorHousman, DEen_HK
dc.contributor.authorCardon, LRen_HK
dc.date.accessioned2010-05-31T03:56:23Z-
dc.date.available2010-05-31T03:56:23Z-
dc.date.issued2009en_HK
dc.identifier.citationAmerican Journal Of Medical Genetics, Part B: Neuropsychiatric Genetics, 2009, v. 150 n. 3, p. 425-429en_HK
dc.identifier.issn1552-485Xen_HK
dc.identifier.urihttp://hdl.handle.net/10722/59737-
dc.description.abstractThe instability of the CAG repeat size of the HD gene when transmitted intergenerationally has critical implications for genetic counseling practices. In particular, CAG repeats between 27 and 35 have been the subject of debate based on small samples. To address this issue, we analyzed allelic instability in the Venezuelan HD kindreds, the largest and most informative families ascertained for HD. We identified 647 transmissions. Our results indicate that repeats in the 27-35 CAG range are highly stable. Out of 69 transmitted alleles in this range, none expand into any penetrant ranges. Contrastingly, 14% of alleles transmitted from the incompletely penetrant range (36-39 CAGs) expand into the completely penetrant range, characterized by alleles with 40 or more CAG repeats. At least 12 of the 534 transmissions from the completely penetrant range contract into the incompletely penetrant range of 36-39 CAG repeats. In these kindreds, none of the individuals with 27-39 CAGs were symptomatic, even though they ranged in age from 11 to 82 years. We expect these findings to be helpful in updating genetic counseling practices. © 2008 Wiley-Liss, Inc.en_HK
dc.languageengen_HK
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www.interscience.wiley.com/jpages/0148-7299:1en_HK
dc.relation.ispartofAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Geneticsen_HK
dc.rightsAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics. Copyright © John Wiley & Sons, Inc.en_HK
dc.subjectGenetic counselingen_HK
dc.subjectHuntington's diseaseen_HK
dc.subjectTrinucleotide repeaten_HK
dc.titleRepeat Instability in the 27-39 CAG Range of the HD Gene in the Venezuelan Kindreds: Counseling Implicationsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1552-4841&volume=150B&spage=425&epage=429&date=2008&atitle=Repeat+instability+in+the+27-39+CAG+range+of+the+HD+gene+in+the+Venezuelan+kindreds:+Counseling+implicationsen_HK
dc.identifier.emailCherny, SS: cherny@hku.hken_HK
dc.identifier.authorityCherny, SS=rp00232en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/ajmg.b.30826en_HK
dc.identifier.pmid18712713-
dc.identifier.scopuseid_2-s2.0-63449116726en_HK
dc.identifier.hkuros154397en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-63449116726&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume150en_HK
dc.identifier.issue3en_HK
dc.identifier.spage425en_HK
dc.identifier.epage429en_HK
dc.identifier.isiWOS:000264675500017-
dc.identifier.scopusauthoridBrocklebank, D=6603151750en_HK
dc.identifier.scopusauthoridGayán, J=6603558565en_HK
dc.identifier.scopusauthoridAndresen, JM=7103027653en_HK
dc.identifier.scopusauthoridRoberts, SA=7403450675en_HK
dc.identifier.scopusauthoridYoung, AB=7403881833en_HK
dc.identifier.scopusauthoridSnodgrass, SR=7006226985en_HK
dc.identifier.scopusauthoridPenney, JB=35378229000en_HK
dc.identifier.scopusauthoridRamosArroyo, MA=6603828065en_HK
dc.identifier.scopusauthoridCha, JJ=26640276500en_HK
dc.identifier.scopusauthoridRosas, HD=6604021272en_HK
dc.identifier.scopusauthoridHersch, SM=7005608225en_HK
dc.identifier.scopusauthoridFeigin, A=7006373790en_HK
dc.identifier.scopusauthoridCherny, SS=7004670001en_HK
dc.identifier.scopusauthoridWexler, NS=7003831887en_HK
dc.identifier.scopusauthoridHousman, DE=7102570207en_HK
dc.identifier.scopusauthoridCardon, LR=7005082964en_HK

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