C9ORF72 repeat expansions in cases with previously identified pathogenic mutations
Identifieur interne : 000E79 ( Main/Exploration ); précédent : 000E78; suivant : 000E80C9ORF72 repeat expansions in cases with previously identified pathogenic mutations
Auteurs : Marka Van Blitterswijk ; Matthew C. Baker ; Mariely Dejesus-Hernandez ; Roberta Ghidoni ; Luisa Benussi ; Elizabeth Finger ; Ging-Yuek R. Hsiung ; Brendan J. Kelley ; Melissa E. Murray ; Nicola J. Rutherford ; Patricia E. Brown ; Thomas Ravenscroft ; Bianca Mullen ; Peter E. A. Ash ; Kevin F. Bieniek ; Kimmo J. Hatanpaa ; Anna Karydas ; Elisabeth Mccarty Wood ; Giovanni Coppola ; Eileen H. Bigio ; Carol Lippa ; Michael J. Strong ; Thomas G. Beach ; David S. Knopman ; Edward D. Huey ; Marsel Mesulam ; Thomas Bird ; Charles L. White ; Andrew Kertesz ; Dan H. Geschwind ; Vivianna M. Van Deerlin ; Ronald C. Petersen ; Giuliano Binetti ; Bruce L. Miller ; Leonard Petrucelli ; Zbigniew K. Wszolek ; Kevin B. Boylan ; Neill R. Graff-Radford ; Ian R. Mackenzie ; Bradley F. Boeve ; Dennis W. Dickson ; Rosa RademakersSource :
- Neurology [ 0028-3878 ] ; 2013.
Abstract
To identify potential genetic modifiers contributing to the phenotypic variability that is detected in patients with repeat expansions in chromosome 9 open reading frame 72 (
A 2-step protocol, with a fluorescent PCR and a repeat-primed PCR, was used to determine the presence of hexanucleotide expansions in
We detected
Our findings indicate that co-occurrence of 2 evidently pathogenic mutations could contribute to the pleiotropy that is detected in patients with
Url:
DOI: 10.1212/WNL.0b013e3182a8250c
PubMed: 24027057
PubMed Central: 3806926
Affiliations:
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Le document en format XML
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repeat expansions in cases with previously identified pathogenic mutations</title>
<author><name sortKey="Van Blitterswijk, Marka" sort="Van Blitterswijk, Marka" uniqKey="Van Blitterswijk M" first="Marka" last="Van Blitterswijk">Marka Van Blitterswijk</name>
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<author><name sortKey="Dejesus Hernandez, Mariely" sort="Dejesus Hernandez, Mariely" uniqKey="Dejesus Hernandez M" first="Mariely" last="Dejesus-Hernandez">Mariely Dejesus-Hernandez</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>C9ORF72</italic>
repeat expansions in cases with previously identified pathogenic mutations</title>
<author><name sortKey="Van Blitterswijk, Marka" sort="Van Blitterswijk, Marka" uniqKey="Van Blitterswijk M" first="Marka" last="Van Blitterswijk">Marka Van Blitterswijk</name>
</author>
<author><name sortKey="Baker, Matthew C" sort="Baker, Matthew C" uniqKey="Baker M" first="Matthew C." last="Baker">Matthew C. Baker</name>
</author>
<author><name sortKey="Dejesus Hernandez, Mariely" sort="Dejesus Hernandez, Mariely" uniqKey="Dejesus Hernandez M" first="Mariely" last="Dejesus-Hernandez">Mariely Dejesus-Hernandez</name>
</author>
<author><name sortKey="Ghidoni, Roberta" sort="Ghidoni, Roberta" uniqKey="Ghidoni R" first="Roberta" last="Ghidoni">Roberta Ghidoni</name>
</author>
<author><name sortKey="Benussi, Luisa" sort="Benussi, Luisa" uniqKey="Benussi L" first="Luisa" last="Benussi">Luisa Benussi</name>
</author>
<author><name sortKey="Finger, Elizabeth" sort="Finger, Elizabeth" uniqKey="Finger E" first="Elizabeth" last="Finger">Elizabeth Finger</name>
</author>
<author><name sortKey="Hsiung, Ging Yuek R" sort="Hsiung, Ging Yuek R" uniqKey="Hsiung G" first="Ging-Yuek R." last="Hsiung">Ging-Yuek R. Hsiung</name>
</author>
<author><name sortKey="Kelley, Brendan J" sort="Kelley, Brendan J" uniqKey="Kelley B" first="Brendan J." last="Kelley">Brendan J. Kelley</name>
</author>
<author><name sortKey="Murray, Melissa E" sort="Murray, Melissa E" uniqKey="Murray M" first="Melissa E." last="Murray">Melissa E. Murray</name>
</author>
<author><name sortKey="Rutherford, Nicola J" sort="Rutherford, Nicola J" uniqKey="Rutherford N" first="Nicola J." last="Rutherford">Nicola J. Rutherford</name>
</author>
<author><name sortKey="Brown, Patricia E" sort="Brown, Patricia E" uniqKey="Brown P" first="Patricia E." last="Brown">Patricia E. Brown</name>
</author>
<author><name sortKey="Ravenscroft, Thomas" sort="Ravenscroft, Thomas" uniqKey="Ravenscroft T" first="Thomas" last="Ravenscroft">Thomas Ravenscroft</name>
</author>
<author><name sortKey="Mullen, Bianca" sort="Mullen, Bianca" uniqKey="Mullen B" first="Bianca" last="Mullen">Bianca Mullen</name>
</author>
<author><name sortKey="Ash, Peter E A" sort="Ash, Peter E A" uniqKey="Ash P" first="Peter E. A." last="Ash">Peter E. A. Ash</name>
</author>
<author><name sortKey="Bieniek, Kevin F" sort="Bieniek, Kevin F" uniqKey="Bieniek K" first="Kevin F." last="Bieniek">Kevin F. Bieniek</name>
</author>
<author><name sortKey="Hatanpaa, Kimmo J" sort="Hatanpaa, Kimmo J" uniqKey="Hatanpaa K" first="Kimmo J." last="Hatanpaa">Kimmo J. Hatanpaa</name>
</author>
<author><name sortKey="Karydas, Anna" sort="Karydas, Anna" uniqKey="Karydas A" first="Anna" last="Karydas">Anna Karydas</name>
</author>
<author><name sortKey="Wood, Elisabeth Mccarty" sort="Wood, Elisabeth Mccarty" uniqKey="Wood E" first="Elisabeth Mccarty" last="Wood">Elisabeth Mccarty Wood</name>
</author>
<author><name sortKey="Coppola, Giovanni" sort="Coppola, Giovanni" uniqKey="Coppola G" first="Giovanni" last="Coppola">Giovanni Coppola</name>
</author>
<author><name sortKey="Bigio, Eileen H" sort="Bigio, Eileen H" uniqKey="Bigio E" first="Eileen H." last="Bigio">Eileen H. Bigio</name>
</author>
<author><name sortKey="Lippa, Carol" sort="Lippa, Carol" uniqKey="Lippa C" first="Carol" last="Lippa">Carol Lippa</name>
</author>
<author><name sortKey="Strong, Michael J" sort="Strong, Michael J" uniqKey="Strong M" first="Michael J." last="Strong">Michael J. Strong</name>
</author>
<author><name sortKey="Beach, Thomas G" sort="Beach, Thomas G" uniqKey="Beach T" first="Thomas G." last="Beach">Thomas G. Beach</name>
</author>
<author><name sortKey="Knopman, David S" sort="Knopman, David S" uniqKey="Knopman D" first="David S." last="Knopman">David S. Knopman</name>
</author>
<author><name sortKey="Huey, Edward D" sort="Huey, Edward D" uniqKey="Huey E" first="Edward D." last="Huey">Edward D. Huey</name>
</author>
<author><name sortKey="Mesulam, Marsel" sort="Mesulam, Marsel" uniqKey="Mesulam M" first="Marsel" last="Mesulam">Marsel Mesulam</name>
</author>
<author><name sortKey="Bird, Thomas" sort="Bird, Thomas" uniqKey="Bird T" first="Thomas" last="Bird">Thomas Bird</name>
</author>
<author><name sortKey="White, Charles L" sort="White, Charles L" uniqKey="White C" first="Charles L." last="White">Charles L. White</name>
</author>
<author><name sortKey="Kertesz, Andrew" sort="Kertesz, Andrew" uniqKey="Kertesz A" first="Andrew" last="Kertesz">Andrew Kertesz</name>
</author>
<author><name sortKey="Geschwind, Dan H" sort="Geschwind, Dan H" uniqKey="Geschwind D" first="Dan H." last="Geschwind">Dan H. Geschwind</name>
</author>
<author><name sortKey="Van Deerlin, Vivianna M" sort="Van Deerlin, Vivianna M" uniqKey="Van Deerlin V" first="Vivianna M." last="Van Deerlin">Vivianna M. Van Deerlin</name>
</author>
<author><name sortKey="Petersen, Ronald C" sort="Petersen, Ronald C" uniqKey="Petersen R" first="Ronald C." last="Petersen">Ronald C. Petersen</name>
</author>
<author><name sortKey="Binetti, Giuliano" sort="Binetti, Giuliano" uniqKey="Binetti G" first="Giuliano" last="Binetti">Giuliano Binetti</name>
</author>
<author><name sortKey="Miller, Bruce L" sort="Miller, Bruce L" uniqKey="Miller B" first="Bruce L." last="Miller">Bruce L. Miller</name>
</author>
<author><name sortKey="Petrucelli, Leonard" sort="Petrucelli, Leonard" uniqKey="Petrucelli L" first="Leonard" last="Petrucelli">Leonard Petrucelli</name>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
</author>
<author><name sortKey="Boylan, Kevin B" sort="Boylan, Kevin B" uniqKey="Boylan K" first="Kevin B." last="Boylan">Kevin B. Boylan</name>
</author>
<author><name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name>
</author>
<author><name sortKey="Mackenzie, Ian R" sort="Mackenzie, Ian R" uniqKey="Mackenzie I" first="Ian R." last="Mackenzie">Ian R. Mackenzie</name>
</author>
<author><name sortKey="Boeve, Bradley F" sort="Boeve, Bradley F" uniqKey="Boeve B" first="Bradley F." last="Boeve">Bradley F. Boeve</name>
</author>
<author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
</author>
<author><name sortKey="Rademakers, Rosa" sort="Rademakers, Rosa" uniqKey="Rademakers R" first="Rosa" last="Rademakers">Rosa Rademakers</name>
</author>
</analytic>
<series><title level="j">Neurology</title>
<idno type="ISSN">0028-3878</idno>
<idno type="eISSN">1526-632X</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
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</teiHeader>
<front><div type="abstract" xml:lang="en"><sec><title>Objective:</title>
<p>To identify potential genetic modifiers contributing to the phenotypic variability that is detected in patients with repeat expansions in chromosome 9 open reading frame 72 (<italic>C9ORF72</italic>
), we investigated the frequency of these expansions in a cohort of 334 subjects previously found to carry mutations in genes known to be associated with a spectrum of neurodegenerative diseases.</p>
</sec>
<sec><title>Methods:</title>
<p>A 2-step protocol, with a fluorescent PCR and a repeat-primed PCR, was used to determine the presence of hexanucleotide expansions in <italic>C9ORF72</italic>
. For one double mutant, we performed Southern blots to assess expansion sizes, and immunohistochemistry to characterize neuropathology.</p>
</sec>
<sec><title>Results:</title>
<p>We detected <italic>C9ORF72</italic>
repeat expansions in 4 of 334 subjects (1.2% [or 1.8% of 217 families]). All these subjects had behavioral phenotypes and also harbored well-known pathogenic mutations in either progranulin (<italic>GRN</italic>
: p.C466LfsX46, p.R493X, p.C31LfsX35) or microtubule-associated protein tau (<italic>MAPT</italic>
: p.P301L). Southern blotting of one double mutant with a p.C466LfsX46 <italic>GRN</italic>
mutation demonstrated a long repeat expansion in brain (>3,000 repeats), and immunohistochemistry showed mixed neuropathology with characteristics of both <italic>C9ORF72</italic>
expansions and <italic>GRN</italic>
mutations.</p>
</sec>
<sec><title>Conclusions:</title>
<p>Our findings indicate that co-occurrence of 2 evidently pathogenic mutations could contribute to the pleiotropy that is detected in patients with <italic>C9ORF72</italic>
repeat expansions. These findings suggest that patients with known mutations should not be excluded from further studies, and that genetic counselors should be aware of this phenomenon when advising patients and their family members.</p>
</sec>
</div>
</front>
</TEI>
<affiliations><list></list>
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<name sortKey="Beach, Thomas G" sort="Beach, Thomas G" uniqKey="Beach T" first="Thomas G." last="Beach">Thomas G. Beach</name>
<name sortKey="Benussi, Luisa" sort="Benussi, Luisa" uniqKey="Benussi L" first="Luisa" last="Benussi">Luisa Benussi</name>
<name sortKey="Bieniek, Kevin F" sort="Bieniek, Kevin F" uniqKey="Bieniek K" first="Kevin F." last="Bieniek">Kevin F. Bieniek</name>
<name sortKey="Bigio, Eileen H" sort="Bigio, Eileen H" uniqKey="Bigio E" first="Eileen H." last="Bigio">Eileen H. Bigio</name>
<name sortKey="Binetti, Giuliano" sort="Binetti, Giuliano" uniqKey="Binetti G" first="Giuliano" last="Binetti">Giuliano Binetti</name>
<name sortKey="Bird, Thomas" sort="Bird, Thomas" uniqKey="Bird T" first="Thomas" last="Bird">Thomas Bird</name>
<name sortKey="Boeve, Bradley F" sort="Boeve, Bradley F" uniqKey="Boeve B" first="Bradley F." last="Boeve">Bradley F. Boeve</name>
<name sortKey="Boylan, Kevin B" sort="Boylan, Kevin B" uniqKey="Boylan K" first="Kevin B." last="Boylan">Kevin B. Boylan</name>
<name sortKey="Brown, Patricia E" sort="Brown, Patricia E" uniqKey="Brown P" first="Patricia E." last="Brown">Patricia E. Brown</name>
<name sortKey="Coppola, Giovanni" sort="Coppola, Giovanni" uniqKey="Coppola G" first="Giovanni" last="Coppola">Giovanni Coppola</name>
<name sortKey="Dejesus Hernandez, Mariely" sort="Dejesus Hernandez, Mariely" uniqKey="Dejesus Hernandez M" first="Mariely" last="Dejesus-Hernandez">Mariely Dejesus-Hernandez</name>
<name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
<name sortKey="Finger, Elizabeth" sort="Finger, Elizabeth" uniqKey="Finger E" first="Elizabeth" last="Finger">Elizabeth Finger</name>
<name sortKey="Geschwind, Dan H" sort="Geschwind, Dan H" uniqKey="Geschwind D" first="Dan H." last="Geschwind">Dan H. Geschwind</name>
<name sortKey="Ghidoni, Roberta" sort="Ghidoni, Roberta" uniqKey="Ghidoni R" first="Roberta" last="Ghidoni">Roberta Ghidoni</name>
<name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name>
<name sortKey="Hatanpaa, Kimmo J" sort="Hatanpaa, Kimmo J" uniqKey="Hatanpaa K" first="Kimmo J." last="Hatanpaa">Kimmo J. Hatanpaa</name>
<name sortKey="Hsiung, Ging Yuek R" sort="Hsiung, Ging Yuek R" uniqKey="Hsiung G" first="Ging-Yuek R." last="Hsiung">Ging-Yuek R. Hsiung</name>
<name sortKey="Huey, Edward D" sort="Huey, Edward D" uniqKey="Huey E" first="Edward D." last="Huey">Edward D. Huey</name>
<name sortKey="Karydas, Anna" sort="Karydas, Anna" uniqKey="Karydas A" first="Anna" last="Karydas">Anna Karydas</name>
<name sortKey="Kelley, Brendan J" sort="Kelley, Brendan J" uniqKey="Kelley B" first="Brendan J." last="Kelley">Brendan J. Kelley</name>
<name sortKey="Kertesz, Andrew" sort="Kertesz, Andrew" uniqKey="Kertesz A" first="Andrew" last="Kertesz">Andrew Kertesz</name>
<name sortKey="Knopman, David S" sort="Knopman, David S" uniqKey="Knopman D" first="David S." last="Knopman">David S. Knopman</name>
<name sortKey="Lippa, Carol" sort="Lippa, Carol" uniqKey="Lippa C" first="Carol" last="Lippa">Carol Lippa</name>
<name sortKey="Mackenzie, Ian R" sort="Mackenzie, Ian R" uniqKey="Mackenzie I" first="Ian R." last="Mackenzie">Ian R. Mackenzie</name>
<name sortKey="Mesulam, Marsel" sort="Mesulam, Marsel" uniqKey="Mesulam M" first="Marsel" last="Mesulam">Marsel Mesulam</name>
<name sortKey="Miller, Bruce L" sort="Miller, Bruce L" uniqKey="Miller B" first="Bruce L." last="Miller">Bruce L. Miller</name>
<name sortKey="Mullen, Bianca" sort="Mullen, Bianca" uniqKey="Mullen B" first="Bianca" last="Mullen">Bianca Mullen</name>
<name sortKey="Murray, Melissa E" sort="Murray, Melissa E" uniqKey="Murray M" first="Melissa E." last="Murray">Melissa E. Murray</name>
<name sortKey="Petersen, Ronald C" sort="Petersen, Ronald C" uniqKey="Petersen R" first="Ronald C." last="Petersen">Ronald C. Petersen</name>
<name sortKey="Petrucelli, Leonard" sort="Petrucelli, Leonard" uniqKey="Petrucelli L" first="Leonard" last="Petrucelli">Leonard Petrucelli</name>
<name sortKey="Rademakers, Rosa" sort="Rademakers, Rosa" uniqKey="Rademakers R" first="Rosa" last="Rademakers">Rosa Rademakers</name>
<name sortKey="Ravenscroft, Thomas" sort="Ravenscroft, Thomas" uniqKey="Ravenscroft T" first="Thomas" last="Ravenscroft">Thomas Ravenscroft</name>
<name sortKey="Rutherford, Nicola J" sort="Rutherford, Nicola J" uniqKey="Rutherford N" first="Nicola J." last="Rutherford">Nicola J. Rutherford</name>
<name sortKey="Strong, Michael J" sort="Strong, Michael J" uniqKey="Strong M" first="Michael J." last="Strong">Michael J. Strong</name>
<name sortKey="Van Blitterswijk, Marka" sort="Van Blitterswijk, Marka" uniqKey="Van Blitterswijk M" first="Marka" last="Van Blitterswijk">Marka Van Blitterswijk</name>
<name sortKey="Van Deerlin, Vivianna M" sort="Van Deerlin, Vivianna M" uniqKey="Van Deerlin V" first="Vivianna M." last="Van Deerlin">Vivianna M. Van Deerlin</name>
<name sortKey="White, Charles L" sort="White, Charles L" uniqKey="White C" first="Charles L." last="White">Charles L. White</name>
<name sortKey="Wood, Elisabeth Mccarty" sort="Wood, Elisabeth Mccarty" uniqKey="Wood E" first="Elisabeth Mccarty" last="Wood">Elisabeth Mccarty Wood</name>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
</noCountry>
</tree>
</affiliations>
</record>
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