Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing
Identifieur interne : 000339 ( Main/Exploration ); précédent : 000338; suivant : 000340Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing
Auteurs : Vincent Morinière [France] ; Karin Dahan [Belgique] ; Pascale Hilbert [Belgique] ; Marieline Lison [Belgique] ; Said Lebbah [France] ; Alexandra Topa [Suède] ; Christine Bole-Feysot [France] ; Solenn Pruvost [France] ; Patrick Nitschke [France] ; Emmanuelle Plaisier [France] ; Bertrand Knebelmann ; Marie-Alice Macher [France] ; Laure-Hélène Noel ; Marie-Claire Gubler [France] ; Corinne Antignac [France] ; Laurence Heidet [France]Source :
- Journal of the American Society of Nephrology : JASN [ 1046-6673 ] ; 2014.
Abstract
Alport syndrome is an inherited nephropathy associated with mutations in genes encoding type IV collagen chains present in the glomerular basement membrane.
Url:
DOI: 10.1681/ASN.2013080912
PubMed: 24854265
PubMed Central: 4243343
Affiliations:
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<author><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name>
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<author><name sortKey="Pruvost, Solenn" sort="Pruvost, Solenn" uniqKey="Pruvost S" first="Solenn" last="Pruvost">Solenn Pruvost</name>
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<author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name>
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<author><name sortKey="Plaisier, Emmanuelle" sort="Plaisier, Emmanuelle" uniqKey="Plaisier E" first="Emmanuelle" last="Plaisier">Emmanuelle Plaisier</name>
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<author><name sortKey="Knebelmann, Bertrand" sort="Knebelmann, Bertrand" uniqKey="Knebelmann B" first="Bertrand" last="Knebelmann">Bertrand Knebelmann</name>
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<author><name sortKey="Macher, Marie Alice" sort="Macher, Marie Alice" uniqKey="Macher M" first="Marie-Alice" last="Macher">Marie-Alice Macher</name>
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<country xml:lang="fr">France</country>
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<placeName><settlement type="city">Paris</settlement>
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<author><name sortKey="Noel, Laure Helene" sort="Noel, Laure Helene" uniqKey="Noel L" first="Laure-Hélène" last="Noel">Laure-Hélène Noel</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff3">Pathology</nlm:aff>
</affiliation>
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<author><name sortKey="Gubler, Marie Claire" sort="Gubler, Marie Claire" uniqKey="Gubler M" first="Marie-Claire" last="Gubler">Marie-Claire Gubler</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Institut National de la Santé et de la Recherche Médicale, Inserm UMR 1163, Laboratory of Inherited Kidney Diseases, Imagine Institute, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
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<author><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff1">Departments of Genetics</nlm:aff>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff5">Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France;</nlm:aff>
<country xml:lang="fr">France</country>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Heidet, Laurence" sort="Heidet, Laurence" uniqKey="Heidet L" first="Laurence" last="Heidet">Laurence Heidet</name>
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<country xml:lang="fr">France</country>
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<placeName><settlement type="city">Paris</settlement>
</placeName>
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<affiliation wicri:level="1"><nlm:aff id="aff4">Pediatric Nephrology Service, Assistance Publique des Hôpitaux de Paris, Necker‐Enfants Malades Hospital, Paris, France;</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pediatric Nephrology Service, Assistance Publique des Hôpitaux de Paris, Necker‐Enfants Malades Hospital, Paris</wicri:regionArea>
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<series><title level="j">Journal of the American Society of Nephrology : JASN</title>
<idno type="ISSN">1046-6673</idno>
<idno type="eISSN">1533-3450</idno>
<imprint><date when="2014">2014</date>
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<front><div type="abstract" xml:lang="en"><p>Alport syndrome is an inherited nephropathy associated with mutations in genes encoding type IV collagen chains present in the glomerular basement membrane. <italic>COL4A5</italic>
mutations are associated with the major X-linked form of the disease, and <italic>COL4A3</italic>
and <italic>COL4A4</italic>
mutations are associated with autosomal recessive and dominant forms (thought to be involved in 15% and 1%–5% of the families, respectively) and benign familial hematuria. Mutation screening of these three large genes is time-consuming and expensive. Here, we carried out a combination of multiplex PCR, amplicon quantification, and next generation sequencing (NGS) analysis of three genes in 101 unrelated patients. We identified 88 mutations and 6 variations of unknown significance on 116 alleles in 83 patients. Two additional indel mutations were found only by secondary Sanger sequencing, but they were easily identified retrospectively with the web-based sequence visualization tool Integrative Genomics Viewer. Altogether, 75 mutations were novel. Sequencing the three genes simultaneously was particularly advantageous as the mode of inheritance could not be determined with certainty in many instances. The proportion of mutations in <italic>COL4A3</italic>
and <italic>COL4A4</italic>
was notably high, and the autosomal dominant forms of Alport syndrome appear more frequently than reported previously. Finally, this approach allowed the identification of large <italic>COL4A3</italic>
and <italic>COL4A4</italic>
rearrangements not described previously. We conclude that NGS is efficient, reduces screening time and cost, and facilitates the provision of appropriate genetic counseling in Alport syndrome.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Belgique</li>
<li>France</li>
<li>Suède</li>
</country>
<settlement><li>Paris</li>
</settlement>
</list>
<tree><noCountry><name sortKey="Knebelmann, Bertrand" sort="Knebelmann, Bertrand" uniqKey="Knebelmann B" first="Bertrand" last="Knebelmann">Bertrand Knebelmann</name>
<name sortKey="Noel, Laure Helene" sort="Noel, Laure Helene" uniqKey="Noel L" first="Laure-Hélène" last="Noel">Laure-Hélène Noel</name>
</noCountry>
<country name="France"><noRegion><name sortKey="Moriniere, Vincent" sort="Moriniere, Vincent" uniqKey="Moriniere V" first="Vincent" last="Morinière">Vincent Morinière</name>
</noRegion>
<name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name>
<name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name>
<name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name>
<name sortKey="Gubler, Marie Claire" sort="Gubler, Marie Claire" uniqKey="Gubler M" first="Marie-Claire" last="Gubler">Marie-Claire Gubler</name>
<name sortKey="Heidet, Laurence" sort="Heidet, Laurence" uniqKey="Heidet L" first="Laurence" last="Heidet">Laurence Heidet</name>
<name sortKey="Heidet, Laurence" sort="Heidet, Laurence" uniqKey="Heidet L" first="Laurence" last="Heidet">Laurence Heidet</name>
<name sortKey="Lebbah, Said" sort="Lebbah, Said" uniqKey="Lebbah S" first="Said" last="Lebbah">Said Lebbah</name>
<name sortKey="Macher, Marie Alice" sort="Macher, Marie Alice" uniqKey="Macher M" first="Marie-Alice" last="Macher">Marie-Alice Macher</name>
<name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name>
<name sortKey="Plaisier, Emmanuelle" sort="Plaisier, Emmanuelle" uniqKey="Plaisier E" first="Emmanuelle" last="Plaisier">Emmanuelle Plaisier</name>
<name sortKey="Pruvost, Solenn" sort="Pruvost, Solenn" uniqKey="Pruvost S" first="Solenn" last="Pruvost">Solenn Pruvost</name>
</country>
<country name="Belgique"><noRegion><name sortKey="Dahan, Karin" sort="Dahan, Karin" uniqKey="Dahan K" first="Karin" last="Dahan">Karin Dahan</name>
</noRegion>
<name sortKey="Hilbert, Pascale" sort="Hilbert, Pascale" uniqKey="Hilbert P" first="Pascale" last="Hilbert">Pascale Hilbert</name>
<name sortKey="Lison, Marieline" sort="Lison, Marieline" uniqKey="Lison M" first="Marieline" last="Lison">Marieline Lison</name>
</country>
<country name="Suède"><noRegion><name sortKey="Topa, Alexandra" sort="Topa, Alexandra" uniqKey="Topa A" first="Alexandra" last="Topa">Alexandra Topa</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
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