A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature
Identifieur interne : 001560 ( Pmc/Checkpoint ); précédent : 001559; suivant : 001561A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature
Auteurs : Patrick Frosk [Canada] ; Bernard Chodirker [Canada] ; Louise Simard [Canada] ; Wael El-Matary [Canada] ; Ana Hanlon-Dearman [Canada] ; Jeremy Schwartzentruber [Canada] ; Jacek Majewski [Canada] ; Cheryl Rockman-Greenberg [Canada]Source :
- BMC Medical Genetics [ 1471-2350 ] ; 2015.
Abstract
Mutations in
Our patient is a 5 week old child of Pakistani descent who presented to our center with generalized edema, ascites, and hypoalbuminemia. She was diagnosed with a protein losing enteropathy secondary to segmental primary intestinal lymphangiectasia. As the generalized edema resolved, it became clear that she had mild persistent lymphedema in her hands and feet. No other abnormalities were noted on examination and development was unremarkable at 27 months of age. Given the suspected genetic etiology and the consanguinity in the family, we used a combination of SNP genotyping and exome sequencing to identify the underlying cause of her disease. We identified several large stretches of homozygosity in the patient that allowed us to sort the variants found in the patient’s exome to identify p.C98W in
Url:
DOI: 10.1186/s12881-015-0175-0
PubMed: 25925991
PubMed Central: 4630843
Affiliations:
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature</title>
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<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p>Mutations in <italic>CCBE1</italic>
have been found to be responsible for a subset of families with autosomal recessive Hennekam syndrome. Hennekam syndrome is defined as the combination of generalized lymphatic dysplasia (ie. lymphedema and lymphangiectasia), variable intellectual disability and characteristic dysmorphic features. The patient we describe here has a lymphatic dysplasia without intellectual disability or dysmorphism caused by mutation in <italic>CCBE1</italic>
, highlighting the phenotypic variability that can be seen with abnormalities in this gene.</p>
</sec>
<sec><title>Case presentation</title>
<p>Our patient is a 5 week old child of Pakistani descent who presented to our center with generalized edema, ascites, and hypoalbuminemia. She was diagnosed with a protein losing enteropathy secondary to segmental primary intestinal lymphangiectasia. As the generalized edema resolved, it became clear that she had mild persistent lymphedema in her hands and feet. No other abnormalities were noted on examination and development was unremarkable at 27 months of age. Given the suspected genetic etiology and the consanguinity in the family, we used a combination of SNP genotyping and exome sequencing to identify the underlying cause of her disease. We identified several large stretches of homozygosity in the patient that allowed us to sort the variants found in the patient’s exome to identify p.C98W in <italic>CCBE1</italic>
as the likely pathogenic variant.</p>
</sec>
<sec><title>Conclusions</title>
<p><italic>CCBE1</italic>
mutation analysis should be considered in all patients with unexplained lymphatic dysplasia even without the other features of classic Hennekam syndrome.</p>
</sec>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Van Balkom, Id" uniqKey="Van Balkom I">ID Van Balkom</name>
</author>
<author><name sortKey="Alders, M" uniqKey="Alders M">M Alders</name>
</author>
<author><name sortKey="Allanson, J" uniqKey="Allanson J">J Allanson</name>
</author>
<author><name sortKey="Bellini, C" uniqKey="Bellini C">C Bellini</name>
</author>
<author><name sortKey="Frank, U" uniqKey="Frank U">U Frank</name>
</author>
<author><name sortKey="De Jong, G" uniqKey="De Jong G">G De Jong</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Alders, M" uniqKey="Alders M">M Alders</name>
</author>
<author><name sortKey="Hogan, Bm" uniqKey="Hogan B">BM Hogan</name>
</author>
<author><name sortKey="Gjini, E" uniqKey="Gjini E">E Gjini</name>
</author>
<author><name sortKey="Salehi, F" uniqKey="Salehi F">F Salehi</name>
</author>
<author><name sortKey="Al Gazali, L" uniqKey="Al Gazali L">L Al-Gazali</name>
</author>
<author><name sortKey="Hennekam, Ea" uniqKey="Hennekam E">EA Hennekam</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Alders, M" uniqKey="Alders M">M Alders</name>
</author>
<author><name sortKey="Al Gazali, L" uniqKey="Al Gazali L">L Al-Gazali</name>
</author>
<author><name sortKey="Cordeiro, I" uniqKey="Cordeiro I">I Cordeiro</name>
</author>
<author><name sortKey="Dallapiccola, B" uniqKey="Dallapiccola B">B Dallapiccola</name>
</author>
<author><name sortKey="Garavelli, L" uniqKey="Garavelli L">L Garavelli</name>
</author>
<author><name sortKey="Tuysuz, B" uniqKey="Tuysuz B">B Tuysuz</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Hogan, Bm" uniqKey="Hogan B">BM Hogan</name>
</author>
<author><name sortKey="Bos, Fl" uniqKey="Bos F">FL Bos</name>
</author>
<author><name sortKey="Bussmann, J" uniqKey="Bussmann J">J Bussmann</name>
</author>
<author><name sortKey="Witte, M" uniqKey="Witte M">M Witte</name>
</author>
<author><name sortKey="Chi, Nc" uniqKey="Chi N">NC Chi</name>
</author>
<author><name sortKey="Duckers, Hj" uniqKey="Duckers H">HJ Duckers</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Bos, Fl" uniqKey="Bos F">FL Bos</name>
</author>
<author><name sortKey="Caunt, M" uniqKey="Caunt M">M Caunt</name>
</author>
<author><name sortKey="Peterson Maduro, J" uniqKey="Peterson Maduro J">J Peterson-Maduro</name>
</author>
<author><name sortKey="Planas Paz, L" uniqKey="Planas Paz L">L Planas-Paz</name>
</author>
<author><name sortKey="Kowalski, J" uniqKey="Kowalski J">J Kowalski</name>
</author>
<author><name sortKey="Karpanen, T" uniqKey="Karpanen T">T Karpanen</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Alders, M" uniqKey="Alders M">M Alders</name>
</author>
<author><name sortKey="Mendola, A" uniqKey="Mendola A">A Mendola</name>
</author>
<author><name sortKey="Ades, L" uniqKey="Ades L">L Ades</name>
</author>
<author><name sortKey="Al Gazali, L" uniqKey="Al Gazali L">L Al Gazali</name>
</author>
<author><name sortKey="Bellini, C" uniqKey="Bellini C">C Bellini</name>
</author>
<author><name sortKey="Dallapiccola, B" uniqKey="Dallapiccola B">B Dallapiccola</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Connell, F" uniqKey="Connell F">F Connell</name>
</author>
<author><name sortKey="Kalidas, K" uniqKey="Kalidas K">K Kalidas</name>
</author>
<author><name sortKey="Ostergaard, P" uniqKey="Ostergaard P">P Ostergaard</name>
</author>
<author><name sortKey="Brice, G" uniqKey="Brice G">G Brice</name>
</author>
<author><name sortKey="Homfray, T" uniqKey="Homfray T">T Homfray</name>
</author>
<author><name sortKey="Roberts, L" uniqKey="Roberts L">L Roberts</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Connell, Fc" uniqKey="Connell F">FC Connell</name>
</author>
<author><name sortKey="Kalidas, K" uniqKey="Kalidas K">K Kalidas</name>
</author>
<author><name sortKey="Ostergaard, P" uniqKey="Ostergaard P">P Ostergaard</name>
</author>
<author><name sortKey="Brice, G" uniqKey="Brice G">G Brice</name>
</author>
<author><name sortKey="Murday, V" uniqKey="Murday V">V Murday</name>
</author>
<author><name sortKey="Mortimer, Ps" uniqKey="Mortimer P">PS Mortimer</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Shah, S" uniqKey="Shah S">S Shah</name>
</author>
<author><name sortKey="Conlin, Lk" uniqKey="Conlin L">LK Conlin</name>
</author>
<author><name sortKey="Gomez, L" uniqKey="Gomez L">L Gomez</name>
</author>
<author><name sortKey="Aagenaes, O" uniqKey="Aagenaes O">O Aagenaes</name>
</author>
<author><name sortKey="Eiklid, K" uniqKey="Eiklid K">K Eiklid</name>
</author>
<author><name sortKey="Knisely, As" uniqKey="Knisely A">AS Knisely</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Dyment, Da" uniqKey="Dyment D">DA Dyment</name>
</author>
<author><name sortKey="Smith, Ac" uniqKey="Smith A">AC Smith</name>
</author>
<author><name sortKey="Alcantara, D" uniqKey="Alcantara D">D Alcantara</name>
</author>
<author><name sortKey="Schwartzentruber, Ja" uniqKey="Schwartzentruber J">JA Schwartzentruber</name>
</author>
<author><name sortKey="Basel Vanagaite, L" uniqKey="Basel Vanagaite L">L Basel-Vanagaite</name>
</author>
<author><name sortKey="Curry, Cj" uniqKey="Curry C">CJ Curry</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Urioste, M" uniqKey="Urioste M">M Urioste</name>
</author>
<author><name sortKey="Rodriguez, Ji" uniqKey="Rodriguez J">JI Rodriguez</name>
</author>
<author><name sortKey="Barcia, Jm" uniqKey="Barcia J">JM Barcia</name>
</author>
<author><name sortKey="Martin, M" uniqKey="Martin M">M Martin</name>
</author>
<author><name sortKey="Escriba, R" uniqKey="Escriba R">R Escriba</name>
</author>
<author><name sortKey="Pardo, M" uniqKey="Pardo M">M Pardo</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Van Haelst, Mm" uniqKey="Van Haelst M">MM van Haelst</name>
</author>
<author><name sortKey="Hoogeboom, J" uniqKey="Hoogeboom J">J Hoogeboom</name>
</author>
<author><name sortKey="Galjaard, Rj" uniqKey="Galjaard R">RJ Galjaard</name>
</author>
<author><name sortKey="Kleijer, Wj" uniqKey="Kleijer W">WJ Kleijer</name>
</author>
<author><name sortKey="Den Hollander, Ns" uniqKey="Den Hollander N">NS den Hollander</name>
</author>
<author><name sortKey="De Krijger, Rr" uniqKey="De Krijger R">RR de Krijger</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Bellini, C" uniqKey="Bellini C">C Bellini</name>
</author>
<author><name sortKey="Bonioli, E" uniqKey="Bonioli E">E Bonioli</name>
</author>
<author><name sortKey="Josso, N" uniqKey="Josso N">N Josso</name>
</author>
<author><name sortKey="Belville, C" uniqKey="Belville C">C Belville</name>
</author>
<author><name sortKey="Mazzella, M" uniqKey="Mazzella M">M Mazzella</name>
</author>
<author><name sortKey="Costabel, S" uniqKey="Costabel S">S Costabel</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Bellini, C" uniqKey="Bellini C">C Bellini</name>
</author>
<author><name sortKey="Hennekam, Rc" uniqKey="Hennekam R">RC Hennekam</name>
</author>
</analytic>
</biblStruct>
</listBibl>
</div1>
</back>
</TEI>
<pmc article-type="case-report"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">BMC Med Genet</journal-id>
<journal-id journal-id-type="iso-abbrev">BMC Med. Genet</journal-id>
<journal-title-group><journal-title>BMC Medical Genetics</journal-title>
</journal-title-group>
<issn pub-type="epub">1471-2350</issn>
<publisher><publisher-name>BioMed Central</publisher-name>
<publisher-loc>London</publisher-loc>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">25925991</article-id>
<article-id pub-id-type="pmc">4630843</article-id>
<article-id pub-id-type="publisher-id">175</article-id>
<article-id pub-id-type="doi">10.1186/s12881-015-0175-0</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject>
</subj-group>
</article-categories>
<title-group><article-title>A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature</article-title>
</title-group>
<contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Frosk</surname>
<given-names>Patrick</given-names>
</name>
<address><email>pfrosk@hsc.mb.ca</email>
</address>
<xref ref-type="aff" rid="Aff1"></xref>
<xref ref-type="aff" rid="Aff2"></xref>
</contrib>
<contrib contrib-type="author"><name><surname>Chodirker</surname>
<given-names>Bernard</given-names>
</name>
<address><email>bchodirker@hsc.mb.ca</email>
</address>
<xref ref-type="aff" rid="Aff1"></xref>
<xref ref-type="aff" rid="Aff2"></xref>
</contrib>
<contrib contrib-type="author"><name><surname>Simard</surname>
<given-names>Louise</given-names>
</name>
<address><email>simard@cc.umanitoba.ca</email>
</address>
<xref ref-type="aff" rid="Aff2"></xref>
</contrib>
<contrib contrib-type="author"><name><surname>El-Matary</surname>
<given-names>Wael</given-names>
</name>
<address><email>welmatary@hsc.mb.ca</email>
</address>
<xref ref-type="aff" rid="Aff1"></xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hanlon-Dearman</surname>
<given-names>Ana</given-names>
</name>
<address><email>AHDearman@hsc.mb.ca</email>
</address>
<xref ref-type="aff" rid="Aff1"></xref>
</contrib>
<contrib contrib-type="author"><name><surname>Schwartzentruber</surname>
<given-names>Jeremy</given-names>
</name>
<address><email>jeremy37@gmail.com</email>
</address>
<xref ref-type="aff" rid="Aff3"></xref>
</contrib>
<contrib contrib-type="author"><name><surname>Majewski</surname>
<given-names>Jacek</given-names>
</name>
<address><email>jacek.majewski@mcgill.ca</email>
</address>
<xref ref-type="aff" rid="Aff3"></xref>
</contrib>
<contrib contrib-type="author"><collab>FORGE Canada Consortium</collab>
<address><email>KBoycott@cheo.on.ca</email>
</address>
</contrib>
<contrib contrib-type="author"><name><surname>Rockman-Greenberg</surname>
<given-names>Cheryl</given-names>
</name>
<address><email>cgreenberg@hsc.mb.ca</email>
</address>
<xref ref-type="aff" rid="Aff1"></xref>
<xref ref-type="aff" rid="Aff2"></xref>
</contrib>
<aff id="Aff1"><label></label>
Department of Pediatrics and Child Health, University of Manitoba, FE229 Community Services Bldg, 685 William Ave, Winnipeg, MB R3E 0Z2 Canada</aff>
<aff id="Aff2"><label></label>
Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB Canada</aff>
<aff id="Aff3"><label></label>
McGill University and Genome Quebec Innovation Centre, QC, Canada</aff>
</contrib-group>
<pub-date pub-type="epub"><day>30</day>
<month>4</month>
<year>2015</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>30</day>
<month>4</month>
<year>2015</year>
</pub-date>
<pub-date pub-type="collection"><year>2015</year>
</pub-date>
<volume>16</volume>
<elocation-id>28</elocation-id>
<history><date date-type="received"><day>11</day>
<month>1</month>
<year>2015</year>
</date>
<date date-type="accepted"><day>22</day>
<month>4</month>
<year>2015</year>
</date>
</history>
<permissions><copyright-statement>© Frosk et al. 2015</copyright-statement>
<license license-type="open-access"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0">http://creativecommons.org/licenses/by/4.0</ext-link>
), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/publicdomain/zero/1.0/">http://creativecommons.org/publicdomain/zero/1.0/</ext-link>
) applies to the data made available in this article, unless otherwise stated.</license-p>
</license>
</permissions>
<abstract id="Abs1"><sec><title>Background</title>
<p>Mutations in <italic>CCBE1</italic>
have been found to be responsible for a subset of families with autosomal recessive Hennekam syndrome. Hennekam syndrome is defined as the combination of generalized lymphatic dysplasia (ie. lymphedema and lymphangiectasia), variable intellectual disability and characteristic dysmorphic features. The patient we describe here has a lymphatic dysplasia without intellectual disability or dysmorphism caused by mutation in <italic>CCBE1</italic>
, highlighting the phenotypic variability that can be seen with abnormalities in this gene.</p>
</sec>
<sec><title>Case presentation</title>
<p>Our patient is a 5 week old child of Pakistani descent who presented to our center with generalized edema, ascites, and hypoalbuminemia. She was diagnosed with a protein losing enteropathy secondary to segmental primary intestinal lymphangiectasia. As the generalized edema resolved, it became clear that she had mild persistent lymphedema in her hands and feet. No other abnormalities were noted on examination and development was unremarkable at 27 months of age. Given the suspected genetic etiology and the consanguinity in the family, we used a combination of SNP genotyping and exome sequencing to identify the underlying cause of her disease. We identified several large stretches of homozygosity in the patient that allowed us to sort the variants found in the patient’s exome to identify p.C98W in <italic>CCBE1</italic>
as the likely pathogenic variant.</p>
</sec>
<sec><title>Conclusions</title>
<p><italic>CCBE1</italic>
mutation analysis should be considered in all patients with unexplained lymphatic dysplasia even without the other features of classic Hennekam syndrome.</p>
</sec>
</abstract>
<kwd-group xml:lang="en"><title>Keywords</title>
<kwd>CCBE1</kwd>
<kwd>Hypoalbuminemia</kwd>
<kwd>Lymphangiectasia</kwd>
<kwd>Lymphatic Dysplasia</kwd>
<kwd>Polydactyly</kwd>
<kwd>Protein-losing Enteropathy</kwd>
</kwd-group>
<custom-meta-group><custom-meta><meta-name>issue-copyright-statement</meta-name>
<meta-value>© The Author(s) 2015</meta-value>
</custom-meta>
</custom-meta-group>
</article-meta>
</front>
</pmc>
<affiliations><list><country><li>Canada</li>
</country>
<region><li>Manitoba</li>
</region>
<settlement><li>Winnipeg</li>
</settlement>
<orgName><li>Université du Manitoba</li>
</orgName>
</list>
<tree><country name="Canada"><region name="Manitoba"><name sortKey="Frosk, Patrick" sort="Frosk, Patrick" uniqKey="Frosk P" first="Patrick" last="Frosk">Patrick Frosk</name>
</region>
<name sortKey="Chodirker, Bernard" sort="Chodirker, Bernard" uniqKey="Chodirker B" first="Bernard" last="Chodirker">Bernard Chodirker</name>
<name sortKey="Chodirker, Bernard" sort="Chodirker, Bernard" uniqKey="Chodirker B" first="Bernard" last="Chodirker">Bernard Chodirker</name>
<name sortKey="El Matary, Wael" sort="El Matary, Wael" uniqKey="El Matary W" first="Wael" last="El-Matary">Wael El-Matary</name>
<name sortKey="Frosk, Patrick" sort="Frosk, Patrick" uniqKey="Frosk P" first="Patrick" last="Frosk">Patrick Frosk</name>
<name sortKey="Hanlon Dearman, Ana" sort="Hanlon Dearman, Ana" uniqKey="Hanlon Dearman A" first="Ana" last="Hanlon-Dearman">Ana Hanlon-Dearman</name>
<name sortKey="Majewski, Jacek" sort="Majewski, Jacek" uniqKey="Majewski J" first="Jacek" last="Majewski">Jacek Majewski</name>
<name sortKey="Rockman Greenberg, Cheryl" sort="Rockman Greenberg, Cheryl" uniqKey="Rockman Greenberg C" first="Cheryl" last="Rockman-Greenberg">Cheryl Rockman-Greenberg</name>
<name sortKey="Rockman Greenberg, Cheryl" sort="Rockman Greenberg, Cheryl" uniqKey="Rockman Greenberg C" first="Cheryl" last="Rockman-Greenberg">Cheryl Rockman-Greenberg</name>
<name sortKey="Schwartzentruber, Jeremy" sort="Schwartzentruber, Jeremy" uniqKey="Schwartzentruber J" first="Jeremy" last="Schwartzentruber">Jeremy Schwartzentruber</name>
<name sortKey="Simard, Louise" sort="Simard, Louise" uniqKey="Simard L" first="Louise" last="Simard">Louise Simard</name>
</country>
</tree>
</affiliations>
</record>
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