A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
Identifieur interne : 000F16 ( PubMed/Corpus ); précédent : 000F15; suivant : 000F17A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
Auteurs : Patrick Frosk ; Bernard Chodirker ; Louise Simard ; Wael El-Matary ; Ana Hanlon-Dearman ; Jeremy Schwartzentruber ; Jacek Majewski ; Cheryl Rockman-GreenbergSource :
- BMC medical genetics [ 1471-2350 ] ; 2015.
English descriptors
- KwdEn :
- Calcium-Binding Proteins (genetics), Consanguinity, Craniofacial Abnormalities (genetics), DNA Mutational Analysis, Female, Genital Diseases, Male (genetics), Genotype, Humans, Hypoalbuminemia (genetics), Infant, Lymphangiectasis, Intestinal (genetics), Lymphatic System (embryology), Lymphedema (genetics), Pakistan, Polydactyly (genetics), Polymorphism, Single Nucleotide, Protein-Losing Enteropathies (genetics), Tumor Suppressor Proteins (genetics).
- MESH :
- chemical , genetics : Calcium-Binding Proteins, Tumor Suppressor Proteins.
- geographic : Pakistan.
- embryology : Lymphatic System.
- genetics : Craniofacial Abnormalities, Genital Diseases, Male, Hypoalbuminemia, Lymphangiectasis, Intestinal, Lymphedema, Polydactyly, Protein-Losing Enteropathies.
- Consanguinity, DNA Mutational Analysis, Female, Genotype, Humans, Infant, Polymorphism, Single Nucleotide.
Abstract
Mutations in CCBE1 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 CCBE1, highlighting the phenotypic variability that can be seen with abnormalities in this gene.
DOI: 10.1186/s12881-015-0175-0
PubMed: 25925991
Links to Exploration step
pubmed:25925991Le document en format XML
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AHDearman@hsc.mb.ca.</nlm:affiliation></affiliation></author><author><name sortKey="Schwartzentruber, Jeremy" sort="Schwartzentruber, Jeremy" uniqKey="Schwartzentruber J" first="Jeremy" last="Schwartzentruber">Jeremy Schwartzentruber</name><affiliation><nlm:affiliation>McGill University and Genome Quebec Innovation Centre, QC, Canada. jeremy37@gmail.com.</nlm:affiliation></affiliation></author><author><name sortKey="Majewski, Jacek" sort="Majewski, Jacek" uniqKey="Majewski J" first="Jacek" last="Majewski">Jacek Majewski</name><affiliation><nlm:affiliation>McGill University and Genome Quebec Innovation Centre, QC, Canada. jacek.majewski@mcgill.ca.</nlm:affiliation></affiliation></author><author><name sortKey="Rockman Greenberg, Cheryl" sort="Rockman Greenberg, Cheryl" uniqKey="Rockman Greenberg C" first="Cheryl" last="Rockman-Greenberg">Cheryl Rockman-Greenberg</name><affiliation><nlm:affiliation>Department of Pediatrics and Child Health, University of Manitoba, FE229 Community Services Bldg, 685 William Ave, Winnipeg, MB, R3E 0Z2, Canada. cgreenberg@hsc.mb.ca.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:25925991</idno><idno type="pmid">25925991</idno><idno type="doi">10.1186/s12881-015-0175-0</idno><idno type="wicri:Area/PubMed/Corpus">000F16</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000F16</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.</title><author><name sortKey="Frosk, Patrick" sort="Frosk, Patrick" uniqKey="Frosk P" first="Patrick" last="Frosk">Patrick Frosk</name><affiliation><nlm:affiliation>Department of Pediatrics and Child Health, University of Manitoba, FE229 Community Services Bldg, 685 William Ave, Winnipeg, MB, R3E 0Z2, Canada. pfrosk@hsc.mb.ca.</nlm:affiliation></affiliation></author><author><name sortKey="Chodirker, Bernard" sort="Chodirker, Bernard" uniqKey="Chodirker B" first="Bernard" last="Chodirker">Bernard Chodirker</name><affiliation><nlm:affiliation>Department of Pediatrics and Child Health, University of Manitoba, FE229 Community Services Bldg, 685 William Ave, Winnipeg, MB, R3E 0Z2, Canada. bchodirker@hsc.mb.ca.</nlm:affiliation></affiliation></author><author><name sortKey="Simard, Louise" sort="Simard, Louise" uniqKey="Simard L" first="Louise" last="Simard">Louise Simard</name><affiliation><nlm:affiliation>Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada. simard@cc.umanitoba.ca.</nlm:affiliation></affiliation></author><author><name sortKey="El Matary, Wael" sort="El Matary, Wael" uniqKey="El Matary W" first="Wael" last="El-Matary">Wael El-Matary</name><affiliation><nlm:affiliation>Department of Pediatrics and Child Health, University of Manitoba, FE229 Community Services Bldg, 685 William Ave, Winnipeg, MB, R3E 0Z2, Canada. welmatary@hsc.mb.ca.</nlm:affiliation></affiliation></author><author><name sortKey="Hanlon Dearman, Ana" sort="Hanlon Dearman, Ana" uniqKey="Hanlon Dearman A" first="Ana" last="Hanlon-Dearman">Ana Hanlon-Dearman</name><affiliation><nlm:affiliation>Department of Pediatrics and Child Health, University of Manitoba, FE229 Community Services Bldg, 685 William Ave, Winnipeg, MB, R3E 0Z2, Canada. AHDearman@hsc.mb.ca.</nlm:affiliation></affiliation></author><author><name sortKey="Schwartzentruber, Jeremy" sort="Schwartzentruber, Jeremy" uniqKey="Schwartzentruber J" first="Jeremy" last="Schwartzentruber">Jeremy Schwartzentruber</name><affiliation><nlm:affiliation>McGill University and Genome Quebec Innovation Centre, QC, Canada. jeremy37@gmail.com.</nlm:affiliation></affiliation></author><author><name sortKey="Majewski, Jacek" sort="Majewski, Jacek" uniqKey="Majewski J" first="Jacek" last="Majewski">Jacek Majewski</name><affiliation><nlm:affiliation>McGill University and Genome Quebec Innovation Centre, QC, Canada. jacek.majewski@mcgill.ca.</nlm:affiliation></affiliation></author><author><name sortKey="Rockman Greenberg, Cheryl" sort="Rockman Greenberg, Cheryl" uniqKey="Rockman Greenberg C" first="Cheryl" last="Rockman-Greenberg">Cheryl Rockman-Greenberg</name><affiliation><nlm:affiliation>Department of Pediatrics and Child Health, University of Manitoba, FE229 Community Services Bldg, 685 William Ave, Winnipeg, MB, R3E 0Z2, Canada. cgreenberg@hsc.mb.ca.</nlm:affiliation></affiliation></author></analytic><series><title level="j">BMC medical genetics</title><idno type="eISSN">1471-2350</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Calcium-Binding Proteins (genetics)</term><term>Consanguinity</term><term>Craniofacial Abnormalities (genetics)</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genital Diseases, Male (genetics)</term><term>Genotype</term><term>Humans</term><term>Hypoalbuminemia (genetics)</term><term>Infant</term><term>Lymphangiectasis, Intestinal (genetics)</term><term>Lymphatic System (embryology)</term><term>Lymphedema (genetics)</term><term>Pakistan</term><term>Polydactyly (genetics)</term><term>Polymorphism, Single Nucleotide</term><term>Protein-Losing Enteropathies (genetics)</term><term>Tumor Suppressor Proteins (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Calcium-Binding Proteins</term><term>Tumor Suppressor Proteins</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Pakistan</term></keywords><keywords scheme="MESH" qualifier="embryology" xml:lang="en"><term>Lymphatic System</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Craniofacial Abnormalities</term><term>Genital Diseases, Male</term><term>Hypoalbuminemia</term><term>Lymphangiectasis, Intestinal</term><term>Lymphedema</term><term>Polydactyly</term><term>Protein-Losing Enteropathies</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Consanguinity</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Infant</term><term>Polymorphism, Single Nucleotide</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in CCBE1 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 CCBE1, highlighting the phenotypic variability that can be seen with abnormalities in this gene.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25925991</PMID><DateCreated><Year>2015</Year><Month>06</Month><Day>20</Day></DateCreated><DateCompleted><Year>2015</Year><Month>09</Month><Day>09</Day></DateCompleted><DateRevised><Year>2017</Year><Month>02</Month><Day>20</Day></DateRevised><Article PubModel="Electronic"><Journal><ISSN IssnType="Electronic">1471-2350</ISSN><JournalIssue CitedMedium="Internet"><Volume>16</Volume><PubDate><Year>2015</Year><Month>Apr</Month><Day>30</Day></PubDate></JournalIssue><Title>BMC medical genetics</Title><ISOAbbreviation>BMC Med. Genet.</ISOAbbreviation></Journal><ArticleTitle>A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.</ArticleTitle><Pagination><MedlinePgn>28</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1186/s12881-015-0175-0</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Mutations in CCBE1 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 CCBE1, highlighting the phenotypic variability that can be seen with abnormalities in this gene.</AbstractText><AbstractText Label="CASE PRESENTATION" NlmCategory="METHODS">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 CCBE1 as the likely pathogenic variant.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">CCBE1 mutation analysis should be considered in all patients with unexplained lymphatic dysplasia even without the other features of classic Hennekam syndrome.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Frosk</LastName><ForeName>Patrick</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Pediatrics and Child Health, University of Manitoba, FE229 Community Services Bldg, 685 William Ave, Winnipeg, MB, R3E 0Z2, Canada. pfrosk@hsc.mb.ca.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada. pfrosk@hsc.mb.ca.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chodirker</LastName><ForeName>Bernard</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Department of Pediatrics and Child Health, University of Manitoba, FE229 Community Services Bldg, 685 William Ave, Winnipeg, MB, R3E 0Z2, Canada. bchodirker@hsc.mb.ca.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada. bchodirker@hsc.mb.ca.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Simard</LastName><ForeName>Louise</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada. simard@cc.umanitoba.ca.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>El-Matary</LastName><ForeName>Wael</ForeName><Initials>W</Initials><AffiliationInfo><Affiliation>Department of Pediatrics and Child Health, University of Manitoba, FE229 Community Services Bldg, 685 William Ave, Winnipeg, MB, R3E 0Z2, Canada. welmatary@hsc.mb.ca.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hanlon-Dearman</LastName><ForeName>Ana</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Pediatrics and Child Health, University of Manitoba, FE229 Community Services Bldg, 685 William Ave, Winnipeg, MB, R3E 0Z2, Canada. AHDearman@hsc.mb.ca.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schwartzentruber</LastName><ForeName>Jeremy</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>McGill University and Genome Quebec Innovation Centre, QC, Canada. jeremy37@gmail.com.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Majewski</LastName><ForeName>Jacek</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>McGill University and Genome Quebec Innovation Centre, QC, Canada. jacek.majewski@mcgill.ca.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><CollectiveName>FORGE Canada Consortium</CollectiveName></Author><Author ValidYN="Y"><LastName>Rockman-Greenberg</LastName><ForeName>Cheryl</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Pediatrics and Child Health, University of Manitoba, FE229 Community Services Bldg, 685 William Ave, Winnipeg, MB, R3E 0Z2, Canada. cgreenberg@hsc.mb.ca.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada. cgreenberg@hsc.mb.ca.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>04</Month><Day>30</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>BMC Med Genet</MedlineTA><NlmUniqueID>100968552</NlmUniqueID><ISSNLinking>1471-2350</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C546964">CCBE1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D002135">Calcium-Binding Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D025521">Tumor Suppressor Proteins</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C537255">Hennekam lymphangiectasia lymphedema syndrome</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>PLoS One. 2013;8(9):e75770</RefSource><PMID Version="1">24086631</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Circ Res. 2011 Aug 19;109(5):486-91</RefSource><PMID Version="1">21778431</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Genet. 2010 Feb;127(2):231-41</RefSource><PMID Version="1">19911200</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Clin Genet. 2012 Feb;81(2):191-7</RefSource><PMID Version="1">22239599</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet. 2001 Nov 15;104(1):65-8</RefSource><PMID Version="1">11746030</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2009 Dec;41(12):1272-4</RefSource><PMID Version="1">19935664</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Genet. 2014 Sep;133(9):1161-7</RefSource><PMID Version="1">24913602</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet. 2001 Nov 15;104(1):69-74</RefSource><PMID Version="1">11746031</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Adv Anat Embryol Cell Biol. 2014;214:187-204</RefSource><PMID Version="1">24276895</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2013 Jul 11;93(1):158-66</RefSource><PMID Version="1">23810382</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet. 1993 Sep 15;47(4):494-503</RefSource><PMID Version="1">8256813</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet. 2002 Nov 1;112(4):412-21</RefSource><PMID Version="1">12376947</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2009 Apr;41(4):396-8</RefSource><PMID Version="1">19287381</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mol Syndromol. 2013 Mar;4(3):107-13</RefSource><PMID Version="1">23653581</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D002135" MajorTopicYN="N">Calcium-Binding Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D003241" MajorTopicYN="N">Consanguinity</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D019465" MajorTopicYN="N">Craniofacial Abnormalities</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005832" MajorTopicYN="N">Genital Diseases, Male</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D034141" MajorTopicYN="N">Hypoalbuminemia</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008201" MajorTopicYN="N">Lymphangiectasis, Intestinal</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008208" MajorTopicYN="N">Lymphatic System</DescriptorName><QualifierName UI="Q000196" MajorTopicYN="Y">embryology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010154" MajorTopicYN="N" Type="Geographic">Pakistan</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017689" MajorTopicYN="N">Polydactyly</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020641" MajorTopicYN="N">Polymorphism, Single Nucleotide</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011504" MajorTopicYN="N">Protein-Losing Enteropathies</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D025521" MajorTopicYN="N">Tumor Suppressor Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList><OtherID Source="NLM">PMC4630843</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>01</Month><Day>11</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>04</Month><Day>22</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>5</Month><Day>1</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate 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