Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study
Objective: To obtain penetrance data for Huntington’s disease when DNA results are in the range of 36–39 CAG repeats and assess the consistency of reporting the upper allele from two reference centres. Method: Data were collected anonymously on age of onset or age last known to be unaffected from a...
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| creator | Quarrell, Oliver W J Rigby, Alan S Barron, L Crow, Y Dalton, A Dennis, N Fryer, A E Heydon, F Kinning, E Lashwood, A Losekoot, M Margerison, L McDonnell, S Morrison, P J Norman, A Peterson, M Raymond, F L Simpson, S Thompson, E Warner, J |
| description | Objective: To obtain penetrance data for Huntington’s disease when DNA results are in the range of 36–39 CAG repeats and assess the consistency of reporting the upper allele from two reference centres. Method: Data were collected anonymously on age of onset or age last known to be unaffected from a cohort of individuals with results in this range. DNA samples were re-analysed in two reference centres. Kaplan-Meier analysis was used to construct an age of onset curve and penetrance figures. Results: Clinical data and concordant DNA results from both reference centres were available for 176 samples; penetrance figures (and 95% confidence intervals) for this cohort, at age 65 and 75 years, were 63.9% (55.5% to 73.2%) and 74.2% (64.2% to 84.2%), respectively. Inclusion of 28 additional subjects for whom repeat DNA results were unavailable, obtained from only one reference centre, or discrepant by one repeat within this range, gave penetrance data (including 95% confidence intervals) at ages 65 and 75 years of 62.4% (54.4% to 70.4%) and 72.7.% (63.3% to 82.1%), respectively. 238 duplicate results were available from the reference centres; 10 (4.2%) differed by one CAG repeat in the reporting of the upper allele and in two (0.84%) of these cases the discrepancy was between 39 and 40 repeats. Conclusion: When DNA results are in this range, a conservative approach is to say that there is at least a 40% chance the person will be asymptomatic at age 65 years and at least a 30% chance the person will be asymptomatic at age 75 years. |
| doi_str_mv | 10.1136/jmg.2006.045120 |
| format | Article |
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Method: Data were collected anonymously on age of onset or age last known to be unaffected from a cohort of individuals with results in this range. DNA samples were re-analysed in two reference centres. Kaplan-Meier analysis was used to construct an age of onset curve and penetrance figures. Results: Clinical data and concordant DNA results from both reference centres were available for 176 samples; penetrance figures (and 95% confidence intervals) for this cohort, at age 65 and 75 years, were 63.9% (55.5% to 73.2%) and 74.2% (64.2% to 84.2%), respectively. Inclusion of 28 additional subjects for whom repeat DNA results were unavailable, obtained from only one reference centre, or discrepant by one repeat within this range, gave penetrance data (including 95% confidence intervals) at ages 65 and 75 years of 62.4% (54.4% to 70.4%) and 72.7.% (63.3% to 82.1%), respectively. 238 duplicate results were available from the reference centres; 10 (4.2%) differed by one CAG repeat in the reporting of the upper allele and in two (0.84%) of these cases the discrepancy was between 39 and 40 repeats. Conclusion: When DNA results are in this range, a conservative approach is to say that there is at least a 40% chance the person will be asymptomatic at age 65 years and at least a 30% chance the person will be asymptomatic at age 75 years.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.2006.045120</identifier><identifier>PMID: 17361007</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd</publisher><subject>36–39 repeats ; Adult ; Age ; Age of Onset ; Aged ; Aged, 80 and over ; Alleles ; Cohort Studies ; Deoxyribonucleic acid ; DNA ; Electronic Letter ; Female ; Genetic testing ; Genetics ; Humans ; Huntington Disease - epidemiology ; Huntington Disease - genetics ; Huntingtons disease ; Huntington’s disease ; Kaplan-Meier Estimate ; Laboratories ; Male ; Middle Aged ; Penetrance ; Reproducibility of Results ; Survival analysis ; Trinucleotide Repeat Expansion</subject><ispartof>Journal of medical genetics, 2007-03, Vol.44 (3), p.e68-e68</ispartof><rights>Copyright 2007 Journal of Medical Genetics</rights><rights>Copyright: 2007 Copyright 2007 Journal of Medical Genetics</rights><rights>Copyright © 2007 BMJ Publishing Group Ltd</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b523t-177edd8a182123a3f116c9addf787a7207d80b30326522cf1f1db3697d480bba3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://jmg.bmj.com/content/44/3/e68.full.pdf$$EPDF$$P50$$Gbmj$$H</linktopdf><linktohtml>$$Uhttps://jmg.bmj.com/content/44/3/e68.full$$EHTML$$P50$$Gbmj$$H</linktohtml><link.rule.ids>114,115,230,314,723,776,780,881,3183,23550,27901,27902,53766,53768,77343,77374</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17361007$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Quarrell, Oliver W J</creatorcontrib><creatorcontrib>Rigby, Alan S</creatorcontrib><creatorcontrib>Barron, L</creatorcontrib><creatorcontrib>Crow, Y</creatorcontrib><creatorcontrib>Dalton, A</creatorcontrib><creatorcontrib>Dennis, N</creatorcontrib><creatorcontrib>Fryer, A E</creatorcontrib><creatorcontrib>Heydon, F</creatorcontrib><creatorcontrib>Kinning, E</creatorcontrib><creatorcontrib>Lashwood, A</creatorcontrib><creatorcontrib>Losekoot, M</creatorcontrib><creatorcontrib>Margerison, L</creatorcontrib><creatorcontrib>McDonnell, S</creatorcontrib><creatorcontrib>Morrison, P J</creatorcontrib><creatorcontrib>Norman, A</creatorcontrib><creatorcontrib>Peterson, M</creatorcontrib><creatorcontrib>Raymond, F L</creatorcontrib><creatorcontrib>Simpson, S</creatorcontrib><creatorcontrib>Thompson, E</creatorcontrib><creatorcontrib>Warner, J</creatorcontrib><title>Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>Objective: To obtain penetrance data for Huntington’s disease when DNA results are in the range of 36–39 CAG repeats and assess the consistency of reporting the upper allele from two reference centres. Method: Data were collected anonymously on age of onset or age last known to be unaffected from a cohort of individuals with results in this range. DNA samples were re-analysed in two reference centres. Kaplan-Meier analysis was used to construct an age of onset curve and penetrance figures. Results: Clinical data and concordant DNA results from both reference centres were available for 176 samples; penetrance figures (and 95% confidence intervals) for this cohort, at age 65 and 75 years, were 63.9% (55.5% to 73.2%) and 74.2% (64.2% to 84.2%), respectively. Inclusion of 28 additional subjects for whom repeat DNA results were unavailable, obtained from only one reference centre, or discrepant by one repeat within this range, gave penetrance data (including 95% confidence intervals) at ages 65 and 75 years of 62.4% (54.4% to 70.4%) and 72.7.% (63.3% to 82.1%), respectively. 238 duplicate results were available from the reference centres; 10 (4.2%) differed by one CAG repeat in the reporting of the upper allele and in two (0.84%) of these cases the discrepancy was between 39 and 40 repeats. Conclusion: When DNA results are in this range, a conservative approach is to say that there is at least a 40% chance the person will be asymptomatic at age 65 years and at least a 30% chance the person will be asymptomatic at age 75 years.</description><subject>36–39 repeats</subject><subject>Adult</subject><subject>Age</subject><subject>Age of Onset</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Alleles</subject><subject>Cohort Studies</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>Electronic Letter</subject><subject>Female</subject><subject>Genetic testing</subject><subject>Genetics</subject><subject>Humans</subject><subject>Huntington Disease - epidemiology</subject><subject>Huntington Disease - genetics</subject><subject>Huntingtons disease</subject><subject>Huntington’s disease</subject><subject>Kaplan-Meier Estimate</subject><subject>Laboratories</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Penetrance</subject><subject>Reproducibility of Results</subject><subject>Survival analysis</subject><subject>Trinucleotide Repeat Expansion</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkU2LFDEQhoMo7rh69iYNggehZ6uS7qTHw4IOjisMCuIHeInpTvXYY3dnTNKLe_Nv-Pf8JWadYf247ClQ9dSbeutl7D7CHFHIk-2wmXMAOYeiRA432AwLWeWSF8VNNgPgPOflQhyxOyFsAVAolLfZESohEUDN2Kc3ZKeGbLajkaI3Y0OZ6XvqKWSt89nZNMZu3EQ3_vz-I2S2C2QCPclMNkx97PKGxugp1T01MXN1IH9uYudG02chTvbiLrvVmj7QvcN7zN6tnr9dnuXr1y9eLp-u87rkIuaoFFlbGaw4cmFEiyibhbG2VZUyioOyFdQCBJcl502LLdpayIWyRarXRhyz073ubqoHsr_3Mr3e-W4w_kI70-l_O2P3WW_cuU73qQCrJPDoIODd14lC1EMXGup7M5KbglbApYJSXQviokiWJE_gw__ArZt8ukxiVJUMVlLIRJ3sqca7EDy1Vzsj6MuQdQpZX4as9yGniQd_W_3DH1JNQL4HuhDp21Xf-C9aKqFK_er9UperZ-vVh4-gy8Q_3vP1sL329180PMDU</recordid><startdate>20070301</startdate><enddate>20070301</enddate><creator>Quarrell, Oliver W J</creator><creator>Rigby, Alan S</creator><creator>Barron, L</creator><creator>Crow, Y</creator><creator>Dalton, A</creator><creator>Dennis, N</creator><creator>Fryer, A E</creator><creator>Heydon, F</creator><creator>Kinning, E</creator><creator>Lashwood, A</creator><creator>Losekoot, M</creator><creator>Margerison, L</creator><creator>McDonnell, S</creator><creator>Morrison, P J</creator><creator>Norman, A</creator><creator>Peterson, M</creator><creator>Raymond, F L</creator><creator>Simpson, S</creator><creator>Thompson, E</creator><creator>Warner, J</creator><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</general><general>BMJ Group</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20070301</creationdate><title>Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study</title><author>Quarrell, Oliver W J ; Rigby, Alan S ; Barron, L ; Crow, Y ; Dalton, A ; Dennis, N ; Fryer, A E ; Heydon, F ; Kinning, E ; Lashwood, A ; Losekoot, M ; Margerison, L ; McDonnell, S ; Morrison, P J ; Norman, A ; Peterson, M ; Raymond, F L ; Simpson, S ; Thompson, E ; Warner, J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b523t-177edd8a182123a3f116c9addf787a7207d80b30326522cf1f1db3697d480bba3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>36–39 repeats</topic><topic>Adult</topic><topic>Age</topic><topic>Age of Onset</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Alleles</topic><topic>Cohort Studies</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>Electronic Letter</topic><topic>Female</topic><topic>Genetic testing</topic><topic>Genetics</topic><topic>Humans</topic><topic>Huntington Disease - epidemiology</topic><topic>Huntington Disease - genetics</topic><topic>Huntingtons disease</topic><topic>Huntington’s disease</topic><topic>Kaplan-Meier Estimate</topic><topic>Laboratories</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Penetrance</topic><topic>Reproducibility of Results</topic><topic>Survival analysis</topic><topic>Trinucleotide Repeat Expansion</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Quarrell, Oliver W J</creatorcontrib><creatorcontrib>Rigby, Alan S</creatorcontrib><creatorcontrib>Barron, L</creatorcontrib><creatorcontrib>Crow, Y</creatorcontrib><creatorcontrib>Dalton, A</creatorcontrib><creatorcontrib>Dennis, N</creatorcontrib><creatorcontrib>Fryer, A E</creatorcontrib><creatorcontrib>Heydon, F</creatorcontrib><creatorcontrib>Kinning, E</creatorcontrib><creatorcontrib>Lashwood, A</creatorcontrib><creatorcontrib>Losekoot, M</creatorcontrib><creatorcontrib>Margerison, L</creatorcontrib><creatorcontrib>McDonnell, S</creatorcontrib><creatorcontrib>Morrison, P J</creatorcontrib><creatorcontrib>Norman, A</creatorcontrib><creatorcontrib>Peterson, M</creatorcontrib><creatorcontrib>Raymond, F L</creatorcontrib><creatorcontrib>Simpson, S</creatorcontrib><creatorcontrib>Thompson, E</creatorcontrib><creatorcontrib>Warner, J</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Quarrell, Oliver W J</au><au>Rigby, Alan S</au><au>Barron, L</au><au>Crow, Y</au><au>Dalton, A</au><au>Dennis, N</au><au>Fryer, A E</au><au>Heydon, F</au><au>Kinning, E</au><au>Lashwood, A</au><au>Losekoot, M</au><au>Margerison, L</au><au>McDonnell, S</au><au>Morrison, P J</au><au>Norman, A</au><au>Peterson, M</au><au>Raymond, F L</au><au>Simpson, S</au><au>Thompson, E</au><au>Warner, J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>2007-03-01</date><risdate>2007</risdate><volume>44</volume><issue>3</issue><spage>e68</spage><epage>e68</epage><pages>e68-e68</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>Objective: To obtain penetrance data for Huntington’s disease when DNA results are in the range of 36–39 CAG repeats and assess the consistency of reporting the upper allele from two reference centres. Method: Data were collected anonymously on age of onset or age last known to be unaffected from a cohort of individuals with results in this range. DNA samples were re-analysed in two reference centres. Kaplan-Meier analysis was used to construct an age of onset curve and penetrance figures. Results: Clinical data and concordant DNA results from both reference centres were available for 176 samples; penetrance figures (and 95% confidence intervals) for this cohort, at age 65 and 75 years, were 63.9% (55.5% to 73.2%) and 74.2% (64.2% to 84.2%), respectively. Inclusion of 28 additional subjects for whom repeat DNA results were unavailable, obtained from only one reference centre, or discrepant by one repeat within this range, gave penetrance data (including 95% confidence intervals) at ages 65 and 75 years of 62.4% (54.4% to 70.4%) and 72.7.% (63.3% to 82.1%), respectively. 238 duplicate results were available from the reference centres; 10 (4.2%) differed by one CAG repeat in the reporting of the upper allele and in two (0.84%) of these cases the discrepancy was between 39 and 40 repeats. Conclusion: When DNA results are in this range, a conservative approach is to say that there is at least a 40% chance the person will be asymptomatic at age 65 years and at least a 30% chance the person will be asymptomatic at age 75 years.</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd</pub><pmid>17361007</pmid><doi>10.1136/jmg.2006.045120</doi><oa>free_for_read</oa></addata></record> |
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| subjects | 36–39 repeats Adult Age Age of Onset Aged Aged, 80 and over Alleles Cohort Studies Deoxyribonucleic acid DNA Electronic Letter Female Genetic testing Genetics Humans Huntington Disease - epidemiology Huntington Disease - genetics Huntingtons disease Huntington’s disease Kaplan-Meier Estimate Laboratories Male Middle Aged Penetrance Reproducibility of Results Survival analysis Trinucleotide Repeat Expansion |
| title | Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study |
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