A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature
Identifieur interne : 002213 ( Main/Exploration ); précédent : 002212; suivant : 002214A 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.
Descripteurs français
- KwdFr :
- Analyse de mutations d'ADN, Consanguinité, Entéropathie exsudative (génétique), Femelle, Génotype, Humains, Hypoalbuminémie (génétique), Lymphangiectasie intestinale (génétique), Lymphoedème (génétique), Maladies de l'appareil génital mâle (génétique), Malformations crâniofaciales (génétique), Nourrisson, Pakistan, Polydactylie (génétique), Polymorphisme de nucléotide simple, Protéines de liaison au calcium (génétique), Protéines suppresseurs de tumeurs (génétique), Système lymphatique (embryologie).
- MESH :
- embryologie : Système lymphatique.
- génétique : Entéropathie exsudative, Hypoalbuminémie, Lymphangiectasie intestinale, Lymphoedème, Maladies de l'appareil génital mâle, Malformations crâniofaciales, Polydactylie, Protéines de liaison au calcium, Protéines suppresseurs de tumeurs.
- Analyse de mutations d'ADN, Consanguinité, Femelle, Génotype, Humains, Nourrisson, Pakistan, Polymorphisme de nucléotide simple.
- Wicri :
- geographic : Pakistan.
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
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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Manitoba, Winnipeg, MB Canada</nlm:aff><orgName type="university">Université du Manitoba</orgName><country>Canada</country><placeName><settlement type="city">Winnipeg</settlement><region type="state">Manitoba</region></placeName></affiliation></author><author><name sortKey="Chodirker, Bernard" sort="Chodirker, Bernard" uniqKey="Chodirker B" first="Bernard" last="Chodirker">Bernard Chodirker</name><affiliation wicri:level="4"><nlm:aff id="Aff1">Department of Pediatrics and Child Health, University of Manitoba, FE229 Community Services Bldg, 685 William Ave, Winnipeg, MB R3E 0Z2 Canada</nlm:aff><orgName type="university">Université du Manitoba</orgName><country>Canada</country><placeName><settlement type="city">Winnipeg</settlement><region type="state">Manitoba</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="Aff2">Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB Canada</nlm:aff><orgName type="university">Université du Manitoba</orgName><country>Canada</country><placeName><settlement type="city">Winnipeg</settlement><region type="state">Manitoba</region></placeName></affiliation></author><author><name sortKey="Simard, Louise" sort="Simard, Louise" uniqKey="Simard L" first="Louise" last="Simard">Louise Simard</name><affiliation wicri:level="4"><nlm:aff id="Aff2">Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB Canada</nlm:aff><orgName type="university">Université du Manitoba</orgName><country>Canada</country><placeName><settlement type="city">Winnipeg</settlement><region type="state">Manitoba</region></placeName></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 wicri:level="4"><nlm:aff id="Aff1">Department of Pediatrics and Child Health, University of Manitoba, FE229 Community Services Bldg, 685 William Ave, Winnipeg, MB R3E 0Z2 Canada</nlm:aff><orgName type="university">Université du Manitoba</orgName><country>Canada</country><placeName><settlement type="city">Winnipeg</settlement><region type="state">Manitoba</region></placeName></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 wicri:level="4"><nlm:aff id="Aff1">Department of Pediatrics and Child Health, University of Manitoba, FE229 Community Services Bldg, 685 William Ave, Winnipeg, MB R3E 0Z2 Canada</nlm:aff><orgName type="university">Université du Manitoba</orgName><country>Canada</country><placeName><settlement type="city">Winnipeg</settlement><region type="state">Manitoba</region></placeName></affiliation></author><author><name sortKey="Schwartzentruber, Jeremy" sort="Schwartzentruber, Jeremy" uniqKey="Schwartzentruber J" first="Jeremy" last="Schwartzentruber">Jeremy Schwartzentruber</name><affiliation wicri:level="1"><nlm:aff id="Aff3">McGill University and Genome Quebec Innovation Centre, QC, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>McGill University and Genome Quebec Innovation Centre, QC</wicri:regionArea><wicri:noRegion>QC</wicri:noRegion></affiliation></author><author><name sortKey="Majewski, Jacek" sort="Majewski, Jacek" uniqKey="Majewski J" first="Jacek" last="Majewski">Jacek Majewski</name><affiliation wicri:level="1"><nlm:aff id="Aff3">McGill University and Genome Quebec Innovation Centre, QC, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>McGill University and Genome Quebec Innovation Centre, QC</wicri:regionArea><wicri:noRegion>QC</wicri:noRegion></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 wicri:level="4"><nlm:aff id="Aff1">Department of Pediatrics and Child Health, University of Manitoba, FE229 Community Services Bldg, 685 William Ave, Winnipeg, MB R3E 0Z2 Canada</nlm:aff><orgName type="university">Université du Manitoba</orgName><country>Canada</country><placeName><settlement type="city">Winnipeg</settlement><region type="state">Manitoba</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="Aff2">Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB Canada</nlm:aff><orgName type="university">Université du Manitoba</orgName><country>Canada</country><placeName><settlement type="city">Winnipeg</settlement><region type="state">Manitoba</region></placeName></affiliation></author></analytic><series><title level="j">BMC Medical Genetics</title><idno type="eISSN">1471-2350</idno><imprint><date when="2015">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="KwdFr" xml:lang="fr"><term>Analyse de mutations d'ADN</term><term>Consanguinité</term><term>Entéropathie exsudative (génétique)</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Hypoalbuminémie (génétique)</term><term>Lymphangiectasie intestinale (génétique)</term><term>Lymphoedème (génétique)</term><term>Maladies de l'appareil génital mâle (génétique)</term><term>Malformations crâniofaciales (génétique)</term><term>Nourrisson</term><term>Pakistan</term><term>Polydactylie (génétique)</term><term>Polymorphisme de nucléotide simple</term><term>Protéines de liaison au calcium (génétique)</term><term>Protéines suppresseurs de tumeurs (génétique)</term><term>Système lymphatique (embryologie)</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="embryologie" xml:lang="fr"><term>Système lymphatique</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" qualifier="génétique" xml:lang="fr"><term>Entéropathie exsudative</term><term>Hypoalbuminémie</term><term>Lymphangiectasie intestinale</term><term>Lymphoedème</term><term>Maladies de l'appareil génital mâle</term><term>Malformations crâniofaciales</term><term>Polydactylie</term><term>Protéines de liaison au calcium</term><term>Protéines suppresseurs de tumeurs</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><keywords scheme="MESH" xml:lang="fr"><term>Analyse de mutations d'ADN</term><term>Consanguinité</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Nourrisson</term><term>Pakistan</term><term>Polymorphisme de nucléotide simple</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Pakistan</term></keywords></textClass></profileDesc></teiHeader><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 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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><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>Pour manipuler ce document sous Unix (Dilib)
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