The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1
Identifieur interne : 003839 ( Pmc/Corpus ); précédent : 003838; suivant : 003840The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1
Auteurs : Anna Materna-Kiryluk ; Krzysztof Kiryluk ; Katelyn E. Burgess ; Arkadiusz Bieleninik ; Simone Sanna-Cherchi ; Ali G. Gharavi ; Anna Latos-BielenskaSource :
- Pediatric nephrology (Berlin, Germany) [ 0931-041X ] ; 2013.
Abstract
Copy number variants (CNVs) are increasingly recognized as an important cause of congenital malformations and likely explain over 16% cases of CAKUT. Here, we illustrate how a molecular diagnosis of CNV can inform the clinical management of a pediatric patient presenting with CAKUT and other organ defects.
We describe a 14 year-old girl with a large
Our case defined new minimal chromosomal candidate regions for both CAKUT and ACC. Moreover, the presence of the
Extended annotation of CNV regions refines diagnosis and uncovers previously unrecognized phenotypic features. This approach enables personalized treatment and prevention strategies in patients harboring genomic deletions.
Url:
DOI: 10.1007/s00467-013-2625-2
PubMed: 24292865
PubMed Central: 3921621
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PMC:3921621Le document en format XML
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<author><name sortKey="Materna Kiryluk, Anna" sort="Materna Kiryluk, Anna" uniqKey="Materna Kiryluk A" first="Anna" last="Materna-Kiryluk">Anna Materna-Kiryluk</name>
<affiliation><nlm:aff id="A1">Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A2">Polish Registry of Congenital Malformations (PRCM), Poznan, Poland</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A3">Center for Medical Genetics GENESIS, Poznan, Poland</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kiryluk, Krzysztof" sort="Kiryluk, Krzysztof" uniqKey="Kiryluk K" first="Krzysztof" last="Kiryluk">Krzysztof Kiryluk</name>
<affiliation><nlm:aff id="A4">Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Burgess, Katelyn E" sort="Burgess, Katelyn E" uniqKey="Burgess K" first="Katelyn E" last="Burgess">Katelyn E. Burgess</name>
<affiliation><nlm:aff id="A4">Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA</nlm:aff>
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<author><name sortKey="Bieleninik, Arkadiusz" sort="Bieleninik, Arkadiusz" uniqKey="Bieleninik A" first="Arkadiusz" last="Bieleninik">Arkadiusz Bieleninik</name>
<affiliation><nlm:aff id="A5">Department of Pediatrics, Goleniów Hospital Medical Center, Goleniów, Poland</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sanna Cherchi, Simone" sort="Sanna Cherchi, Simone" uniqKey="Sanna Cherchi S" first="Simone" last="Sanna-Cherchi">Simone Sanna-Cherchi</name>
<affiliation><nlm:aff id="A4">Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A6">Department of Medicine, St. Luke’s-Roosevelt Hospital Center, New York, USA</nlm:aff>
</affiliation>
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<author><name sortKey="Gharavi, Ali G" sort="Gharavi, Ali G" uniqKey="Gharavi A" first="Ali G." last="Gharavi">Ali G. Gharavi</name>
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</affiliation>
</author>
<author><name sortKey="Latos Bielenska, Anna" sort="Latos Bielenska, Anna" uniqKey="Latos Bielenska A" first="Anna" last="Latos-Bielenska">Anna Latos-Bielenska</name>
<affiliation><nlm:aff id="A1">Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A2">Polish Registry of Congenital Malformations (PRCM), Poznan, Poland</nlm:aff>
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<affiliation><nlm:aff id="A3">Center for Medical Genetics GENESIS, Poznan, Poland</nlm:aff>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1</title>
<author><name sortKey="Materna Kiryluk, Anna" sort="Materna Kiryluk, Anna" uniqKey="Materna Kiryluk A" first="Anna" last="Materna-Kiryluk">Anna Materna-Kiryluk</name>
<affiliation><nlm:aff id="A1">Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A2">Polish Registry of Congenital Malformations (PRCM), Poznan, Poland</nlm:aff>
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<affiliation><nlm:aff id="A3">Center for Medical Genetics GENESIS, Poznan, Poland</nlm:aff>
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<author><name sortKey="Kiryluk, Krzysztof" sort="Kiryluk, Krzysztof" uniqKey="Kiryluk K" first="Krzysztof" last="Kiryluk">Krzysztof Kiryluk</name>
<affiliation><nlm:aff id="A4">Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Burgess, Katelyn E" sort="Burgess, Katelyn E" uniqKey="Burgess K" first="Katelyn E" last="Burgess">Katelyn E. Burgess</name>
<affiliation><nlm:aff id="A4">Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA</nlm:aff>
</affiliation>
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<author><name sortKey="Bieleninik, Arkadiusz" sort="Bieleninik, Arkadiusz" uniqKey="Bieleninik A" first="Arkadiusz" last="Bieleninik">Arkadiusz Bieleninik</name>
<affiliation><nlm:aff id="A5">Department of Pediatrics, Goleniów Hospital Medical Center, Goleniów, Poland</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sanna Cherchi, Simone" sort="Sanna Cherchi, Simone" uniqKey="Sanna Cherchi S" first="Simone" last="Sanna-Cherchi">Simone Sanna-Cherchi</name>
<affiliation><nlm:aff id="A4">Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A6">Department of Medicine, St. Luke’s-Roosevelt Hospital Center, New York, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Gharavi, Ali G" sort="Gharavi, Ali G" uniqKey="Gharavi A" first="Ali G." last="Gharavi">Ali G. Gharavi</name>
<affiliation><nlm:aff id="A4">Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Latos Bielenska, Anna" sort="Latos Bielenska, Anna" uniqKey="Latos Bielenska A" first="Anna" last="Latos-Bielenska">Anna Latos-Bielenska</name>
<affiliation><nlm:aff id="A1">Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A2">Polish Registry of Congenital Malformations (PRCM), Poznan, Poland</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A3">Center for Medical Genetics GENESIS, Poznan, Poland</nlm:aff>
</affiliation>
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<series><title level="j">Pediatric nephrology (Berlin, Germany)</title>
<idno type="ISSN">0931-041X</idno>
<idno type="eISSN">1432-198X</idno>
<imprint><date when="2013">2013</date>
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<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title>
<p id="P1">Copy number variants (CNVs) are increasingly recognized as an important cause of congenital malformations and likely explain over 16% cases of CAKUT. Here, we illustrate how a molecular diagnosis of CNV can inform the clinical management of a pediatric patient presenting with CAKUT and other organ defects.</p>
</sec>
<sec id="S2"><title>Methods</title>
<p id="P2">We describe a 14 year-old girl with a large <italic>de novo</italic>
deletion of chromosome 3q13.31-22.1 that disrupts 101 known genes and manifests with CAKUT, neurodevelopmental delay, agenesis of corpus callosum (ACC), cardiac malformations, electrolyte and endocrine disorders, skeletal abnormalities and dysmorphic features. We perform extensive annotation of the deleted region to prioritize genes for specific phenotypes and to predict future disease risk.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">Our case defined new minimal chromosomal candidate regions for both CAKUT and ACC. Moreover, the presence of the <italic>CASR</italic>
gene in the deleted interval predicted a diagnosis of hypocalciuric hypercalcemia, which was confirmed by serum and urine chemistries. Our gene annotation explained clinical hypothyroidism and predicted that the index case is at increased risk of thoracic aortic aneurysm, renal cell carcinoma and myeloproliferative disorder.</p>
</sec>
<sec id="S4"><title>Conclusions</title>
<p id="P4">Extended annotation of CNV regions refines diagnosis and uncovers previously unrecognized phenotypic features. This approach enables personalized treatment and prevention strategies in patients harboring genomic deletions.</p>
</sec>
</div>
</front>
</TEI>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">8708728</journal-id>
<journal-id journal-id-type="pubmed-jr-id">1785</journal-id>
<journal-id journal-id-type="nlm-ta">Pediatr Nephrol</journal-id>
<journal-id journal-id-type="iso-abbrev">Pediatr. Nephrol.</journal-id>
<journal-title-group><journal-title>Pediatric nephrology (Berlin, Germany)</journal-title>
</journal-title-group>
<issn pub-type="ppub">0931-041X</issn>
<issn pub-type="epub">1432-198X</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">24292865</article-id>
<article-id pub-id-type="pmc">3921621</article-id>
<article-id pub-id-type="doi">10.1007/s00467-013-2625-2</article-id>
<article-id pub-id-type="manuscript">NIHMS545386</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Materna-Kiryluk</surname>
<given-names>Anna</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A2">2</xref>
<xref ref-type="aff" rid="A3">3</xref>
<xref rid="FN1" ref-type="author-notes">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kiryluk</surname>
<given-names>Krzysztof</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
<xref rid="FN1" ref-type="author-notes">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Burgess</surname>
<given-names>Katelyn E</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bieleninik</surname>
<given-names>Arkadiusz</given-names>
</name>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Sanna-Cherchi</surname>
<given-names>Simone</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
<xref ref-type="aff" rid="A6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gharavi</surname>
<given-names>Ali G.</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Latos-Bielenska</surname>
<given-names>Anna</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A2">2</xref>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland</aff>
<aff id="A2"><label>2</label>
Polish Registry of Congenital Malformations (PRCM), Poznan, Poland</aff>
<aff id="A3"><label>3</label>
Center for Medical Genetics GENESIS, Poznan, Poland</aff>
<aff id="A4"><label>4</label>
Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA</aff>
<aff id="A5"><label>5</label>
Department of Pediatrics, Goleniów Hospital Medical Center, Goleniów, Poland</aff>
<aff id="A6"><label>6</label>
Department of Medicine, St. Luke’s-Roosevelt Hospital Center, New York, USA</aff>
<author-notes><corresp id="FN1"><label>*</label>
Corresponding Authors: Anna Materna-Kiryluk, Department of Medical Genetics, Poznan University of Medical Sciences, Grunwaldzka 55/15, 60-352 Poznan, Poland, Tel: 48 (61) 854 73 45, <email>akiryluk@umed.poznan.pl</email>
. Krzysztof Kiryluk, Department of Medicine, Division of Nephrology, Columbia University, 1150 St Nicholas Ave, Russ Berrie Pavilion #413, New York, NY 10032, Tel: 212-851-5559 Fax: 212-851-5520 <email>kk473@columbia.edu</email>
</corresp>
<fn id="FN2" fn-type="equal"><label>*</label>
<p>These authors contributed equally</p>
</fn>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>20</day>
<month>1</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="epub"><day>30</day>
<month>11</month>
<year>2013</year>
</pub-date>
<pub-date pub-type="ppub"><month>2</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>01</day>
<month>2</month>
<year>2015</year>
</pub-date>
<volume>29</volume>
<issue>2</issue>
<fpage>257</fpage>
<lpage>267</lpage>
<pmc-comment>elocation-id from pubmed: 10.1007/s00467-013-2625-2</pmc-comment>
<abstract><sec id="S1"><title>Background</title>
<p id="P1">Copy number variants (CNVs) are increasingly recognized as an important cause of congenital malformations and likely explain over 16% cases of CAKUT. Here, we illustrate how a molecular diagnosis of CNV can inform the clinical management of a pediatric patient presenting with CAKUT and other organ defects.</p>
</sec>
<sec id="S2"><title>Methods</title>
<p id="P2">We describe a 14 year-old girl with a large <italic>de novo</italic>
deletion of chromosome 3q13.31-22.1 that disrupts 101 known genes and manifests with CAKUT, neurodevelopmental delay, agenesis of corpus callosum (ACC), cardiac malformations, electrolyte and endocrine disorders, skeletal abnormalities and dysmorphic features. We perform extensive annotation of the deleted region to prioritize genes for specific phenotypes and to predict future disease risk.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">Our case defined new minimal chromosomal candidate regions for both CAKUT and ACC. Moreover, the presence of the <italic>CASR</italic>
gene in the deleted interval predicted a diagnosis of hypocalciuric hypercalcemia, which was confirmed by serum and urine chemistries. Our gene annotation explained clinical hypothyroidism and predicted that the index case is at increased risk of thoracic aortic aneurysm, renal cell carcinoma and myeloproliferative disorder.</p>
</sec>
<sec id="S4"><title>Conclusions</title>
<p id="P4">Extended annotation of CNV regions refines diagnosis and uncovers previously unrecognized phenotypic features. This approach enables personalized treatment and prevention strategies in patients harboring genomic deletions.</p>
</sec>
</abstract>
<kwd-group><kwd>Copy number variants</kwd>
<kwd>chromosome deletion</kwd>
<kwd>CAKUT</kwd>
<kwd>neurodevelopmental delay</kwd>
<kwd>agenesis of corpus callosum</kwd>
<kwd>genetics</kwd>
<kwd>clinical management</kwd>
</kwd-group>
<funding-group><award-group><funding-source country="United States">National Institute of Diabetes and Digestive and Kidney Diseases : NIDDK</funding-source>
<award-id>K23 DK090207 || DK</award-id>
</award-group>
</funding-group>
</article-meta>
</front>
</pmc>
</record>
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