CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops
Identifieur interne : 003984 ( Main/Exploration ); précédent : 003983; suivant : 003985CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops
Auteurs : Sohela Shah [États-Unis] ; Laura K. Conlin [États-Unis] ; Luis Gomez [États-Unis] ; Ystein Aagenaes [Norvège] ; Kristin Eiklid [Norvège] ; A. S. Knisely [Royaume-Uni] ; Michael T. Mennuti [États-Unis] ; Randolph P. Matthews [États-Unis] ; Nancy B. Spinner [États-Unis] ; Laura N. Bull [États-Unis]Source :
- PLoS ONE [ 1932-6203 ] ; 2013.
Descripteurs français
- KwdFr :
- Anasarque foeto-placentaire (génétique), Cholestase (génétique), Femelle, Fratrie, Génotype, Homozygote, Humains, Lymphangiectasie intestinale (génétique), Lymphoedème (génétique), Maladies de l'appareil génital mâle (génétique), Malformations crâniofaciales (génétique), Mutation (génétique), Mâle, Nourrisson, Phénotype, Polymorphisme de nucléotide simple (génétique), Protéines de liaison au calcium (génétique), Protéines suppresseurs de tumeurs (génétique).
- MESH :
- génétique : Anasarque foeto-placentaire, Cholestase, Lymphangiectasie intestinale, Lymphoedème, Maladies de l'appareil génital mâle, Malformations crâniofaciales, Mutation, Polymorphisme de nucléotide simple, Protéines de liaison au calcium, Protéines suppresseurs de tumeurs.
- Femelle, Fratrie, Génotype, Homozygote, Humains, Mâle, Nourrisson, Phénotype.
English descriptors
- KwdEn :
- Calcium-Binding Proteins (genetics), Cholestasis (genetics), Craniofacial Abnormalities (genetics), Female, Genital Diseases, Male (genetics), Genotype, Homozygote, Humans, Hydrops Fetalis (genetics), Infant, Lymphangiectasis, Intestinal (genetics), Lymphedema (genetics), Male, Mutation (genetics), Phenotype, Polymorphism, Single Nucleotide (genetics), Siblings, Tumor Suppressor Proteins (genetics).
- MESH :
- chemical , genetics : Calcium-Binding Proteins, Tumor Suppressor Proteins.
- genetics : Cholestasis, Craniofacial Abnormalities, Genital Diseases, Male, Hydrops Fetalis, Lymphangiectasis, Intestinal, Lymphedema, Mutation, Polymorphism, Single Nucleotide.
- Female, Genotype, Homozygote, Humans, Infant, Male, Phenotype, Siblings.
Abstract
Lymphedema-cholestasis syndrome (LCS; Aagenaes syndrome) is a rare autosomal recessive disorder, characterized by 1) neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and 2) severe chronic lymphedema, mainly lower limb. LCS was originally described in a Norwegian kindred in which a locus,
Consanguineous parents of Mexican ancestry had a child with LCS who did not exhibit extended homozygosity in the
Both siblings harbored a homozygous mutation in
Mutations in
Url:
DOI: 10.1371/journal.pone.0075770
PubMed: 24086631
PubMed Central: 3784396
Affiliations:
- Norvège, Royaume-Uni, États-Unis
- Angleterre, Californie, Grand Londres, Pennsylvanie, Østlandet
- Londres, Oslo
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Le document en format XML
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Conlin</name><affiliation wicri:level="2"><nlm:aff id="aff2"><addr-line>Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Gomez, Luis" sort="Gomez, Luis" uniqKey="Gomez L" first="Luis" last="Gomez">Luis Gomez</name><affiliation wicri:level="2"><nlm:aff id="aff3"><addr-line>Department of Obstetrics and Gynecology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics and Gynecology, University of Pennsylvania, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Aagenaes, Ystein" sort="Aagenaes, Ystein" uniqKey="Aagenaes " first=" Ystein" last="Aagenaes"> Ystein Aagenaes</name><affiliation wicri:level="3"><nlm:aff id="aff4"><addr-line>Oslo University Hospital, Oslo, Norway</addr-line></nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Oslo University Hospital, Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></affiliation></author><author><name sortKey="Eiklid, Kristin" sort="Eiklid, Kristin" uniqKey="Eiklid K" first="Kristin" last="Eiklid">Kristin Eiklid</name><affiliation wicri:level="3"><nlm:aff id="aff5"><addr-line>Department of Medical Genetics, Oslo University Hospital, Ullevål, Oslo, Norway</addr-line></nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Medical Genetics, Oslo University Hospital, Ullevål, Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></affiliation></author><author><name sortKey="Knisely, A S" sort="Knisely, A S" uniqKey="Knisely A" first="A. S." last="Knisely">A. S. Knisely</name><affiliation wicri:level="3"><nlm:aff id="aff6"><addr-line>Institute of Liver Studies, King’s College Hospital, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Liver Studies, King’s College Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Mennuti, Michael T" sort="Mennuti, Michael T" uniqKey="Mennuti M" first="Michael T." last="Mennuti">Michael T. Mennuti</name><affiliation wicri:level="2"><nlm:aff id="aff3"><addr-line>Department of Obstetrics and Gynecology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics and Gynecology, University of Pennsylvania, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Matthews, Randolph P" sort="Matthews, Randolph P" uniqKey="Matthews R" first="Randolph P." last="Matthews">Randolph P. Matthews</name><affiliation wicri:level="2"><nlm:aff id="aff7"><addr-line>Division of Gastroenterology, Hepatology,and Nutrition, Children’s Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Gastroenterology, Hepatology,and Nutrition, Children’s Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Spinner, Nancy B" sort="Spinner, Nancy B" uniqKey="Spinner N" first="Nancy B." last="Spinner">Nancy B. Spinner</name><affiliation wicri:level="2"><nlm:aff id="aff2"><addr-line>Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Bull, Laura N" sort="Bull, Laura N" uniqKey="Bull L" first="Laura N." last="Bull">Laura N. Bull</name><affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Liver Center Laboratory, Department of Medicine, University of California San Francisco, San Francisco, California, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Liver Center Laboratory, Department of Medicine, University of California San Francisco, San Francisco, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="aff8"><addr-line>Institute for Human Genetics, Department of Medicine, University of California San Francisco, San Francisco, California, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Institute for Human Genetics, Department of Medicine, University of California San Francisco, San Francisco, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author></analytic><series><title level="j">PLoS ONE</title><idno type="eISSN">1932-6203</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Calcium-Binding Proteins (genetics)</term><term>Cholestasis (genetics)</term><term>Craniofacial Abnormalities (genetics)</term><term>Female</term><term>Genital Diseases, Male (genetics)</term><term>Genotype</term><term>Homozygote</term><term>Humans</term><term>Hydrops Fetalis (genetics)</term><term>Infant</term><term>Lymphangiectasis, Intestinal (genetics)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Mutation (genetics)</term><term>Phenotype</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Siblings</term><term>Tumor Suppressor Proteins (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Anasarque foeto-placentaire (génétique)</term><term>Cholestase (génétique)</term><term>Femelle</term><term>Fratrie</term><term>Génotype</term><term>Homozygote</term><term>Humains</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>Mutation (génétique)</term><term>Mâle</term><term>Nourrisson</term><term>Phénotype</term><term>Polymorphisme de nucléotide simple (génétique)</term><term>Protéines de liaison au calcium (génétique)</term><term>Protéines suppresseurs de tumeurs (génétique)</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" qualifier="genetics" xml:lang="en"><term>Cholestasis</term><term>Craniofacial Abnormalities</term><term>Genital Diseases, Male</term><term>Hydrops Fetalis</term><term>Lymphangiectasis, Intestinal</term><term>Lymphedema</term><term>Mutation</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Anasarque foeto-placentaire</term><term>Cholestase</term><term>Lymphangiectasie intestinale</term><term>Lymphoedème</term><term>Maladies de l'appareil génital mâle</term><term>Malformations crâniofaciales</term><term>Mutation</term><term>Polymorphisme de nucléotide simple</term><term>Protéines de liaison au calcium</term><term>Protéines suppresseurs de tumeurs</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Genotype</term><term>Homozygote</term><term>Humans</term><term>Infant</term><term>Male</term><term>Phenotype</term><term>Siblings</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Femelle</term><term>Fratrie</term><term>Génotype</term><term>Homozygote</term><term>Humains</term><term>Mâle</term><term>Nourrisson</term><term>Phénotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec sec-type="headed"><title>Background</title><p>Lymphedema-cholestasis syndrome (LCS; Aagenaes syndrome) is a rare autosomal recessive disorder, characterized by 1) neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and 2) severe chronic lymphedema, mainly lower limb. LCS was originally described in a Norwegian kindred in which a locus, <italic>LCS1</italic>, was mapped to a 6.6cM region on chromosome 15. Mutations in <italic>CCBE1</italic> on chromosome 18 have been reported in some cases of lymphatic dysplasia, but not in LCS.</p></sec><sec sec-type="headed"><title>Methods</title><p>Consanguineous parents of Mexican ancestry had a child with LCS who did not exhibit extended homozygosity in the <italic>LCS1</italic> region. A subsequent pregnancy was electively terminated due to fetal hydrops. We performed whole-genome single nucleotide polymorphism genotyping to identify regions of homozygosity in these siblings, and sequenced promising candidate genes.</p></sec><sec sec-type="headed"><title>Results</title><p>Both siblings harbored a homozygous mutation in <italic>CCBE1</italic>, c.398 T>C, predicted to result in the missense change p.L133P. Regions containing known ‘cholestasis genes’ did not demonstrate homozygosity in the LCS patient.</p></sec><sec sec-type="headed"><title>Conclusions</title><p>Mutations in <italic>CCBE1</italic> may yield a phenotype not only of lymphatic dysplasia, but also of LCS or fetal hydrops; however, the possibility that the sibling with LCS also carries a homozygous mutation in an unidentified gene influencing cholestasis cannot be excluded.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Aagenaes, O" uniqKey="Aagenaes O">O Aagenaes</name></author><author><name sortKey="Sigstad, H" uniqKey="Sigstad H">H Sigstad</name></author><author><name sortKey="Bjorn Hansen, R" uniqKey="Bjorn Hansen R">R Bjorn-Hansen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bull, Ln" uniqKey="Bull L">LN Bull</name></author><author><name sortKey="Roche, E" uniqKey="Roche E">E Roche</name></author><author><name sortKey="Song, Ej" uniqKey="Song E">EJ Song</name></author><author><name sortKey="Pedersen, J" uniqKey="Pedersen J">J Pedersen</name></author><author><name sortKey="Knisely, As" uniqKey="Knisely A">AS Knisely</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fruhwirth, M" uniqKey="Fruhwirth M">M Frühwirth</name></author><author><name sortKey="Janecke, Ar" uniqKey="Janecke A">AR Janecke</name></author><author><name sortKey="Muller, T" uniqKey="Muller T">T Müller</name></author><author><name sortKey="Carlton, Ve" uniqKey="Carlton V">VE Carlton</name></author><author><name sortKey="Kronenberg, F" uniqKey="Kronenberg F">F Kronenberg</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Zollner, G" uniqKey="Zollner G">G Zollner</name></author><author><name sortKey="Trauner, M" uniqKey="Trauner M">M Trauner</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Carlton, Ve" uniqKey="Carlton V">VE 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Shah</name></region><name sortKey="Bull, Laura N" sort="Bull, Laura N" uniqKey="Bull L" first="Laura N." last="Bull">Laura N. 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Spinner</name></country><country name="Norvège"><region name="Østlandet"><name sortKey="Aagenaes, Ystein" sort="Aagenaes, Ystein" uniqKey="Aagenaes " first=" Ystein" last="Aagenaes"> Ystein Aagenaes</name></region><name sortKey="Eiklid, Kristin" sort="Eiklid, Kristin" uniqKey="Eiklid K" first="Kristin" last="Eiklid">Kristin Eiklid</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Knisely, A S" sort="Knisely, A S" uniqKey="Knisely A" first="A. S." last="Knisely">A. S. Knisely</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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