A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature
Identifieur interne : 007323 ( Ncbi/Curation ); précédent : 007322; suivant : 007324A 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
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PMC:4630843Le document en format XML
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<term>Consanguinity</term>
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<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>
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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>
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