Mutations of DNAI1 in Primary Ciliary Dyskinesia
Identifieur interne : 000205 ( Ncbi/Checkpoint ); précédent : 000204; suivant : 000206Mutations of DNAI1 in Primary Ciliary Dyskinesia
Auteurs : Maimoona A. Zariwala ; Margaret W. Leigh ; Franck Ceppa ; Marcus P. Kennedy ; Peadar G. Noone ; Johnny L. Carson ; Milan J. Hazucha ; Adriana Lori ; Judit Horvath ; Heike Olbrich ; Niki T. Loges ; Anne-Marie Bridoux ; Gaëlle Pennarun ; Bénédicte Duriez ; Estelle Escudier ; Hannah M. Mitchison ; Rahul Chodhari ; Eddie M. K. Chung ; Lucy C. Morgan ; Robbert U. De Iongh ; Jonathan Rutland ; Ugo Pradal ; Heymut Omran ; Serge Amselem ; Michael R. KnowlesSource :
- American Journal of Respiratory and Critical Care Medicine [ 1073-449X ] ; 2006.
Abstract
Url:
DOI: 10.1164/rccm.200603-370OC
PubMed: 16858015
PubMed Central: 2648054
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations of <bold><italic>DNAI1</italic>
</bold>
in Primary Ciliary Dyskinesia</title>
<author><name sortKey="Zariwala, Maimoona A" sort="Zariwala, Maimoona A" uniqKey="Zariwala M" first="Maimoona A." last="Zariwala">Maimoona A. Zariwala</name>
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<author><name sortKey="Leigh, Margaret W" sort="Leigh, Margaret W" uniqKey="Leigh M" first="Margaret W." last="Leigh">Margaret W. Leigh</name>
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<author><name sortKey="Ceppa, Franck" sort="Ceppa, Franck" uniqKey="Ceppa F" first="Franck" last="Ceppa">Franck Ceppa</name>
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<author><name sortKey="Kennedy, Marcus P" sort="Kennedy, Marcus P" uniqKey="Kennedy M" first="Marcus P." last="Kennedy">Marcus P. Kennedy</name>
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<author><name sortKey="Noone, Peadar G" sort="Noone, Peadar G" uniqKey="Noone P" first="Peadar G." last="Noone">Peadar G. Noone</name>
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<author><name sortKey="Carson, Johnny L" sort="Carson, Johnny L" uniqKey="Carson J" first="Johnny L." last="Carson">Johnny L. Carson</name>
</author>
<author><name sortKey="Hazucha, Milan J" sort="Hazucha, Milan J" uniqKey="Hazucha M" first="Milan J." last="Hazucha">Milan J. Hazucha</name>
</author>
<author><name sortKey="Lori, Adriana" sort="Lori, Adriana" uniqKey="Lori A" first="Adriana" last="Lori">Adriana Lori</name>
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<author><name sortKey="Horvath, Judit" sort="Horvath, Judit" uniqKey="Horvath J" first="Judit" last="Horvath">Judit Horvath</name>
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<author><name sortKey="Olbrich, Heike" sort="Olbrich, Heike" uniqKey="Olbrich H" first="Heike" last="Olbrich">Heike Olbrich</name>
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<author><name sortKey="Loges, Niki T" sort="Loges, Niki T" uniqKey="Loges N" first="Niki T." last="Loges">Niki T. Loges</name>
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<author><name sortKey="Bridoux, Anne Marie" sort="Bridoux, Anne Marie" uniqKey="Bridoux A" first="Anne-Marie" last="Bridoux">Anne-Marie Bridoux</name>
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<author><name sortKey="Pennarun, Gaelle" sort="Pennarun, Gaelle" uniqKey="Pennarun G" first="Gaëlle" last="Pennarun">Gaëlle Pennarun</name>
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<author><name sortKey="Duriez, Benedicte" sort="Duriez, Benedicte" uniqKey="Duriez B" first="Bénédicte" last="Duriez">Bénédicte Duriez</name>
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<author><name sortKey="Escudier, Estelle" sort="Escudier, Estelle" uniqKey="Escudier E" first="Estelle" last="Escudier">Estelle Escudier</name>
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<author><name sortKey="Mitchison, Hannah M" sort="Mitchison, Hannah M" uniqKey="Mitchison H" first="Hannah M." last="Mitchison">Hannah M. Mitchison</name>
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<author><name sortKey="Chodhari, Rahul" sort="Chodhari, Rahul" uniqKey="Chodhari R" first="Rahul" last="Chodhari">Rahul Chodhari</name>
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<author><name sortKey="Chung, Eddie M K" sort="Chung, Eddie M K" uniqKey="Chung E" first="Eddie M. K." last="Chung">Eddie M. K. Chung</name>
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<author><name sortKey="Morgan, Lucy C" sort="Morgan, Lucy C" uniqKey="Morgan L" first="Lucy C." last="Morgan">Lucy C. Morgan</name>
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<author><name sortKey="De Iongh, Robbert U" sort="De Iongh, Robbert U" uniqKey="De Iongh R" first="Robbert U." last="De Iongh">Robbert U. De Iongh</name>
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<author><name sortKey="Rutland, Jonathan" sort="Rutland, Jonathan" uniqKey="Rutland J" first="Jonathan" last="Rutland">Jonathan Rutland</name>
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<author><name sortKey="Pradal, Ugo" sort="Pradal, Ugo" uniqKey="Pradal U" first="Ugo" last="Pradal">Ugo Pradal</name>
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<author><name sortKey="Omran, Heymut" sort="Omran, Heymut" uniqKey="Omran H" first="Heymut" last="Omran">Heymut Omran</name>
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<author><name sortKey="Amselem, Serge" sort="Amselem, Serge" uniqKey="Amselem S" first="Serge" last="Amselem">Serge Amselem</name>
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<author><name sortKey="Knowles, Michael R" sort="Knowles, Michael R" uniqKey="Knowles M" first="Michael R." last="Knowles">Michael R. Knowles</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations of <bold><italic>DNAI1</italic>
</bold>
in Primary Ciliary Dyskinesia</title>
<author><name sortKey="Zariwala, Maimoona A" sort="Zariwala, Maimoona A" uniqKey="Zariwala M" first="Maimoona A." last="Zariwala">Maimoona A. Zariwala</name>
</author>
<author><name sortKey="Leigh, Margaret W" sort="Leigh, Margaret W" uniqKey="Leigh M" first="Margaret W." last="Leigh">Margaret W. Leigh</name>
</author>
<author><name sortKey="Ceppa, Franck" sort="Ceppa, Franck" uniqKey="Ceppa F" first="Franck" last="Ceppa">Franck Ceppa</name>
</author>
<author><name sortKey="Kennedy, Marcus P" sort="Kennedy, Marcus P" uniqKey="Kennedy M" first="Marcus P." last="Kennedy">Marcus P. Kennedy</name>
</author>
<author><name sortKey="Noone, Peadar G" sort="Noone, Peadar G" uniqKey="Noone P" first="Peadar G." last="Noone">Peadar G. Noone</name>
</author>
<author><name sortKey="Carson, Johnny L" sort="Carson, Johnny L" uniqKey="Carson J" first="Johnny L." last="Carson">Johnny L. Carson</name>
</author>
<author><name sortKey="Hazucha, Milan J" sort="Hazucha, Milan J" uniqKey="Hazucha M" first="Milan J." last="Hazucha">Milan J. Hazucha</name>
</author>
<author><name sortKey="Lori, Adriana" sort="Lori, Adriana" uniqKey="Lori A" first="Adriana" last="Lori">Adriana Lori</name>
</author>
<author><name sortKey="Horvath, Judit" sort="Horvath, Judit" uniqKey="Horvath J" first="Judit" last="Horvath">Judit Horvath</name>
</author>
<author><name sortKey="Olbrich, Heike" sort="Olbrich, Heike" uniqKey="Olbrich H" first="Heike" last="Olbrich">Heike Olbrich</name>
</author>
<author><name sortKey="Loges, Niki T" sort="Loges, Niki T" uniqKey="Loges N" first="Niki T." last="Loges">Niki T. Loges</name>
</author>
<author><name sortKey="Bridoux, Anne Marie" sort="Bridoux, Anne Marie" uniqKey="Bridoux A" first="Anne-Marie" last="Bridoux">Anne-Marie Bridoux</name>
</author>
<author><name sortKey="Pennarun, Gaelle" sort="Pennarun, Gaelle" uniqKey="Pennarun G" first="Gaëlle" last="Pennarun">Gaëlle Pennarun</name>
</author>
<author><name sortKey="Duriez, Benedicte" sort="Duriez, Benedicte" uniqKey="Duriez B" first="Bénédicte" last="Duriez">Bénédicte Duriez</name>
</author>
<author><name sortKey="Escudier, Estelle" sort="Escudier, Estelle" uniqKey="Escudier E" first="Estelle" last="Escudier">Estelle Escudier</name>
</author>
<author><name sortKey="Mitchison, Hannah M" sort="Mitchison, Hannah M" uniqKey="Mitchison H" first="Hannah M." last="Mitchison">Hannah M. Mitchison</name>
</author>
<author><name sortKey="Chodhari, Rahul" sort="Chodhari, Rahul" uniqKey="Chodhari R" first="Rahul" last="Chodhari">Rahul Chodhari</name>
</author>
<author><name sortKey="Chung, Eddie M K" sort="Chung, Eddie M K" uniqKey="Chung E" first="Eddie M. K." last="Chung">Eddie M. K. Chung</name>
</author>
<author><name sortKey="Morgan, Lucy C" sort="Morgan, Lucy C" uniqKey="Morgan L" first="Lucy C." last="Morgan">Lucy C. Morgan</name>
</author>
<author><name sortKey="De Iongh, Robbert U" sort="De Iongh, Robbert U" uniqKey="De Iongh R" first="Robbert U." last="De Iongh">Robbert U. De Iongh</name>
</author>
<author><name sortKey="Rutland, Jonathan" sort="Rutland, Jonathan" uniqKey="Rutland J" first="Jonathan" last="Rutland">Jonathan Rutland</name>
</author>
<author><name sortKey="Pradal, Ugo" sort="Pradal, Ugo" uniqKey="Pradal U" first="Ugo" last="Pradal">Ugo Pradal</name>
</author>
<author><name sortKey="Omran, Heymut" sort="Omran, Heymut" uniqKey="Omran H" first="Heymut" last="Omran">Heymut Omran</name>
</author>
<author><name sortKey="Amselem, Serge" sort="Amselem, Serge" uniqKey="Amselem S" first="Serge" last="Amselem">Serge Amselem</name>
</author>
<author><name sortKey="Knowles, Michael R" sort="Knowles, Michael R" uniqKey="Knowles M" first="Michael R." last="Knowles">Michael R. Knowles</name>
</author>
</analytic>
<series><title level="j">American Journal of Respiratory and Critical Care Medicine</title>
<idno type="ISSN">1073-449X</idno>
<idno type="eISSN">1535-4970</idno>
<imprint><date when="2006">2006</date>
</imprint>
</series>
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</teiHeader>
<front><div type="abstract" xml:lang="en"><p><italic>Rationale:</italic>
Primary ciliary dyskinesia (PCD) is a rare, usually autosomal recessive, genetic disorder characterized by ciliary dysfunction, sino-pulmonary disease, and situs inversus. Disease-causing mutations have been reported in <italic>DNAI1</italic>
and <italic>DNAH5</italic>
encoding outer dynein arm (ODA) proteins of cilia.</p>
<p><italic>Objectives:</italic>
We analyzed <italic>DNAI1</italic>
to identify disease-causing mutations in PCD and to determine if the previously reported IVS1+2_3insT (219+3insT) mutation represents a “founder” or “hot spot” mutation.</p>
<p><italic>Methods:</italic>
Patients with PCD from 179 unrelated families were studied. Exclusion mapping showed no linkage to <italic>DNAI1</italic>
for 13 families; the entire coding region was sequenced in a patient from the remaining 166 families. Reverse transcriptase–polymerase chain reaction (RT-PCR) was performed on nasal epithelial RNA in 14 families.</p>
<p><italic>Results:</italic>
Mutations in <italic>DNAI1</italic>
including 12 novel mutations were identified in 16 of 179 (9%) families; 14 harbored biallelic mutations. Deep intronic splice mutations were not identified by reverse transcriptase–polymerase chain reaction. The prevalence of mutations in families with defined ODA defect was 13%; no mutations were found in patients without a defined ODA defect. The previously reported IVS1+2_3insT mutation accounted for 57% (17/30) of mutant alleles, and marker analysis indicates a common founder for this mutation. Seven mutations occurred in three exons (13, 16, and 17); taken together with previous reports, these three exons are emerging as mutation clusters harboring 29% (12/42) of mutant alleles.</p>
<p><italic>Conclusions:</italic>
A total of 10% of patients with PCD are estimated to harbor mutations in <italic>DNAI1</italic>
; most occur as a common founder IVS1+2_3insT or in exons 13, 16, and 17. This information is useful for establishing a clinical molecular genetic test for PCD.</p>
</div>
</front>
</TEI>
<affiliations><list></list>
<tree><noCountry><name sortKey="Amselem, Serge" sort="Amselem, Serge" uniqKey="Amselem S" first="Serge" last="Amselem">Serge Amselem</name>
<name sortKey="Bridoux, Anne Marie" sort="Bridoux, Anne Marie" uniqKey="Bridoux A" first="Anne-Marie" last="Bridoux">Anne-Marie Bridoux</name>
<name sortKey="Carson, Johnny L" sort="Carson, Johnny L" uniqKey="Carson J" first="Johnny L." last="Carson">Johnny L. Carson</name>
<name sortKey="Ceppa, Franck" sort="Ceppa, Franck" uniqKey="Ceppa F" first="Franck" last="Ceppa">Franck Ceppa</name>
<name sortKey="Chodhari, Rahul" sort="Chodhari, Rahul" uniqKey="Chodhari R" first="Rahul" last="Chodhari">Rahul Chodhari</name>
<name sortKey="Chung, Eddie M K" sort="Chung, Eddie M K" uniqKey="Chung E" first="Eddie M. K." last="Chung">Eddie M. K. Chung</name>
<name sortKey="De Iongh, Robbert U" sort="De Iongh, Robbert U" uniqKey="De Iongh R" first="Robbert U." last="De Iongh">Robbert U. De Iongh</name>
<name sortKey="Duriez, Benedicte" sort="Duriez, Benedicte" uniqKey="Duriez B" first="Bénédicte" last="Duriez">Bénédicte Duriez</name>
<name sortKey="Escudier, Estelle" sort="Escudier, Estelle" uniqKey="Escudier E" first="Estelle" last="Escudier">Estelle Escudier</name>
<name sortKey="Hazucha, Milan J" sort="Hazucha, Milan J" uniqKey="Hazucha M" first="Milan J." last="Hazucha">Milan J. Hazucha</name>
<name sortKey="Horvath, Judit" sort="Horvath, Judit" uniqKey="Horvath J" first="Judit" last="Horvath">Judit Horvath</name>
<name sortKey="Kennedy, Marcus P" sort="Kennedy, Marcus P" uniqKey="Kennedy M" first="Marcus P." last="Kennedy">Marcus P. Kennedy</name>
<name sortKey="Knowles, Michael R" sort="Knowles, Michael R" uniqKey="Knowles M" first="Michael R." last="Knowles">Michael R. Knowles</name>
<name sortKey="Leigh, Margaret W" sort="Leigh, Margaret W" uniqKey="Leigh M" first="Margaret W." last="Leigh">Margaret W. Leigh</name>
<name sortKey="Loges, Niki T" sort="Loges, Niki T" uniqKey="Loges N" first="Niki T." last="Loges">Niki T. Loges</name>
<name sortKey="Lori, Adriana" sort="Lori, Adriana" uniqKey="Lori A" first="Adriana" last="Lori">Adriana Lori</name>
<name sortKey="Mitchison, Hannah M" sort="Mitchison, Hannah M" uniqKey="Mitchison H" first="Hannah M." last="Mitchison">Hannah M. Mitchison</name>
<name sortKey="Morgan, Lucy C" sort="Morgan, Lucy C" uniqKey="Morgan L" first="Lucy C." last="Morgan">Lucy C. Morgan</name>
<name sortKey="Noone, Peadar G" sort="Noone, Peadar G" uniqKey="Noone P" first="Peadar G." last="Noone">Peadar G. Noone</name>
<name sortKey="Olbrich, Heike" sort="Olbrich, Heike" uniqKey="Olbrich H" first="Heike" last="Olbrich">Heike Olbrich</name>
<name sortKey="Omran, Heymut" sort="Omran, Heymut" uniqKey="Omran H" first="Heymut" last="Omran">Heymut Omran</name>
<name sortKey="Pennarun, Gaelle" sort="Pennarun, Gaelle" uniqKey="Pennarun G" first="Gaëlle" last="Pennarun">Gaëlle Pennarun</name>
<name sortKey="Pradal, Ugo" sort="Pradal, Ugo" uniqKey="Pradal U" first="Ugo" last="Pradal">Ugo Pradal</name>
<name sortKey="Rutland, Jonathan" sort="Rutland, Jonathan" uniqKey="Rutland J" first="Jonathan" last="Rutland">Jonathan Rutland</name>
<name sortKey="Zariwala, Maimoona A" sort="Zariwala, Maimoona A" uniqKey="Zariwala M" first="Maimoona A." last="Zariwala">Maimoona A. Zariwala</name>
</noCountry>
</tree>
</affiliations>
</record>
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