Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
Identifieur interne : 002A33 ( Main/Exploration ); précédent : 002A32; suivant : 002A34Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
Auteurs : Mariëlle Alders [Pays-Bas] ; Lihadh Al-Gazali ; Isabelle Cordeiro ; Bruno Dallapiccola ; Livia Garavelli ; Beyhan Tuysuz ; Faranak Salehi ; Martin A. Haagmans ; Olaf R. Mook ; Charles B. Majoie ; Marcel M. Mannens ; Raoul C. HennekamSource :
- Human genetics [ 1432-1203 ] ; 2014.
Descripteurs français
- KwdFr :
- Allèles, Analyse de séquence d'ARN, Anomalies morphologiques congénitales de la main (génétique), Anomalies morphologiques congénitales du pied (génétique), Banque de gènes, Cadhérines (génétique), Cartographie chromosomique, Déficience intellectuelle (génétique), Exome, Génotype, Homozygote, Humains, Hétérozygote, Instabilité articulaire (génétique), Liaison génétique, Lymphangiectasie intestinale (génétique), Lymphoedème (génétique), Maladies de l'appareil génital mâle (génétique), Malformations crâniofaciales (génétique), Malformations multiples (génétique), Mutation, Pedigree, Phénotype, Protéines de liaison au calcium (génétique), Protéines suppresseurs de tumeurs (génétique), Substitution d'acide aminé, Études de cohortes.
- MESH :
- génétique : Anomalies morphologiques congénitales de la main, Anomalies morphologiques congénitales du pied, Cadhérines, Déficience intellectuelle, Instabilité articulaire, Lymphangiectasie intestinale, Lymphoedème, Maladies de l'appareil génital mâle, Malformations crâniofaciales, Malformations multiples, Protéines de liaison au calcium, Protéines suppresseurs de tumeurs.
- Allèles, Analyse de séquence d'ARN, Banque de gènes, Cartographie chromosomique, Exome, Génotype, Homozygote, Humains, Hétérozygote, Liaison génétique, Mutation, Pedigree, Phénotype, Substitution d'acide aminé, Études de cohortes.
English descriptors
- KwdEn :
- Abnormalities, Multiple (genetics), Alleles, Amino Acid Substitution, Cadherins (genetics), Calcium-Binding Proteins (genetics), Chromosome Mapping, Cohort Studies, Craniofacial Abnormalities (genetics), Exome, Foot Deformities, Congenital (genetics), Gene Library, Genetic Linkage, Genital Diseases, Male (genetics), Genotype, Hand Deformities, Congenital (genetics), Heterozygote, Homozygote, Humans, Intellectual Disability (genetics), Joint Instability (genetics), Lymphangiectasis, Intestinal (genetics), Lymphedema (genetics), Mutation, Pedigree, Phenotype, Sequence Analysis, RNA, Tumor Suppressor Proteins (genetics).
- MESH :
- chemical , genetics : Cadherins, Calcium-Binding Proteins, Tumor Suppressor Proteins.
- genetics : Abnormalities, Multiple, Craniofacial Abnormalities, Foot Deformities, Congenital, Genital Diseases, Male, Hand Deformities, Congenital, Intellectual Disability, Joint Instability, Lymphangiectasis, Intestinal, Lymphedema.
- Alleles, Amino Acid Substitution, Chromosome Mapping, Cohort Studies, Exome, Gene Library, Genetic Linkage, Genotype, Heterozygote, Homozygote, Humans, Mutation, Pedigree, Phenotype, Sequence Analysis, RNA.
Abstract
The Hennekam lymphangiectasia-lymphedema syndrome is a genetically heterogeneous disorder. It can be caused by mutations in CCBE1 which are found in approximately 25 % of cases. We used homozygosity mapping and whole-exome sequencing in the original HS family with multiple affected individuals in whom no CCBE1 mutation had been detected, and identified a homozygous mutation in the FAT4 gene. Subsequent targeted mutation analysis of FAT4 in a cohort of 24 CCBE1 mutation-negative Hennekam syndrome patients identified homozygous or compound heterozygous mutations in four additional families. Mutations in FAT4 have been previously associated with Van Maldergem syndrome. Detailed clinical comparison between van Maldergem syndrome and Hennekam syndrome patients shows that there is a substantial overlap in phenotype, especially in facial appearance. We conclude that Hennekam syndrome can be caused by mutations in FAT4 and be allelic to Van Maldergem syndrome.
DOI: 10.1007/s00439-014-1456-y
PubMed: 24913602
Affiliations:
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Haagmans</name></author><author><name sortKey="Mook, Olaf R" sort="Mook, Olaf R" uniqKey="Mook O" first="Olaf R" last="Mook">Olaf R. Mook</name></author><author><name sortKey="Majoie, Charles B" sort="Majoie, Charles B" uniqKey="Majoie C" first="Charles B" last="Majoie">Charles B. Majoie</name></author><author><name sortKey="Mannens, Marcel M" sort="Mannens, Marcel M" uniqKey="Mannens M" first="Marcel M" last="Mannens">Marcel M. Mannens</name></author><author><name sortKey="Hennekam, Raoul C" sort="Hennekam, Raoul C" uniqKey="Hennekam R" first="Raoul C" last="Hennekam">Raoul C. Hennekam</name></author></analytic><series><title level="j">Human genetics</title><idno type="eISSN">1432-1203</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (genetics)</term><term>Alleles</term><term>Amino Acid Substitution</term><term>Cadherins (genetics)</term><term>Calcium-Binding Proteins (genetics)</term><term>Chromosome Mapping</term><term>Cohort Studies</term><term>Craniofacial Abnormalities (genetics)</term><term>Exome</term><term>Foot Deformities, Congenital (genetics)</term><term>Gene Library</term><term>Genetic Linkage</term><term>Genital Diseases, Male (genetics)</term><term>Genotype</term><term>Hand Deformities, Congenital (genetics)</term><term>Heterozygote</term><term>Homozygote</term><term>Humans</term><term>Intellectual Disability (genetics)</term><term>Joint Instability (genetics)</term><term>Lymphangiectasis, Intestinal (genetics)</term><term>Lymphedema (genetics)</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term><term>Sequence Analysis, RNA</term><term>Tumor Suppressor Proteins (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Allèles</term><term>Analyse de séquence d'ARN</term><term>Anomalies morphologiques congénitales de la main (génétique)</term><term>Anomalies morphologiques congénitales du pied (génétique)</term><term>Banque de gènes</term><term>Cadhérines (génétique)</term><term>Cartographie chromosomique</term><term>Déficience intellectuelle (génétique)</term><term>Exome</term><term>Génotype</term><term>Homozygote</term><term>Humains</term><term>Hétérozygote</term><term>Instabilité articulaire (génétique)</term><term>Liaison 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>Malformations multiples (génétique)</term><term>Mutation</term><term>Pedigree</term><term>Phénotype</term><term>Protéines de liaison au calcium (génétique)</term><term>Protéines suppresseurs de tumeurs (génétique)</term><term>Substitution d'acide aminé</term><term>Études de cohortes</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cadherins</term><term>Calcium-Binding Proteins</term><term>Tumor Suppressor Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term><term>Craniofacial Abnormalities</term><term>Foot Deformities, Congenital</term><term>Genital Diseases, Male</term><term>Hand Deformities, Congenital</term><term>Intellectual Disability</term><term>Joint Instability</term><term>Lymphangiectasis, Intestinal</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Anomalies morphologiques congénitales de la main</term><term>Anomalies morphologiques congénitales du pied</term><term>Cadhérines</term><term>Déficience intellectuelle</term><term>Instabilité articulaire</term><term>Lymphangiectasie intestinale</term><term>Lymphoedème</term><term>Maladies de l'appareil génital mâle</term><term>Malformations crâniofaciales</term><term>Malformations multiples</term><term>Protéines de liaison au calcium</term><term>Protéines suppresseurs de tumeurs</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Alleles</term><term>Amino Acid Substitution</term><term>Chromosome Mapping</term><term>Cohort Studies</term><term>Exome</term><term>Gene Library</term><term>Genetic Linkage</term><term>Genotype</term><term>Heterozygote</term><term>Homozygote</term><term>Humans</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term><term>Sequence Analysis, RNA</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Allèles</term><term>Analyse de séquence d'ARN</term><term>Banque de gènes</term><term>Cartographie chromosomique</term><term>Exome</term><term>Génotype</term><term>Homozygote</term><term>Humains</term><term>Hétérozygote</term><term>Liaison génétique</term><term>Mutation</term><term>Pedigree</term><term>Phénotype</term><term>Substitution d'acide aminé</term><term>Études de cohortes</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The Hennekam lymphangiectasia-lymphedema syndrome is a genetically heterogeneous disorder. It can be caused by mutations in CCBE1 which are found in approximately 25 % of cases. We used homozygosity mapping and whole-exome sequencing in the original HS family with multiple affected individuals in whom no CCBE1 mutation had been detected, and identified a homozygous mutation in the FAT4 gene. Subsequent targeted mutation analysis of FAT4 in a cohort of 24 CCBE1 mutation-negative Hennekam syndrome patients identified homozygous or compound heterozygous mutations in four additional families. Mutations in FAT4 have been previously associated with Van Maldergem syndrome. Detailed clinical comparison between van Maldergem syndrome and Hennekam syndrome patients shows that there is a substantial overlap in phenotype, especially in facial appearance. We conclude that Hennekam syndrome can be caused by mutations in FAT4 and be allelic to Van Maldergem syndrome.</div></front></TEI><affiliations><list><country><li>Pays-Bas</li></country><region><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li></settlement><orgName><li>Université d'Amsterdam</li></orgName></list><tree><noCountry><name sortKey="Al Gazali, Lihadh" sort="Al Gazali, Lihadh" uniqKey="Al Gazali L" first="Lihadh" last="Al-Gazali">Lihadh Al-Gazali</name><name sortKey="Cordeiro, Isabelle" sort="Cordeiro, Isabelle" uniqKey="Cordeiro I" first="Isabelle" last="Cordeiro">Isabelle Cordeiro</name><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><name sortKey="Garavelli, Livia" sort="Garavelli, Livia" uniqKey="Garavelli L" first="Livia" last="Garavelli">Livia Garavelli</name><name sortKey="Haagmans, Martin A" sort="Haagmans, Martin A" uniqKey="Haagmans M" first="Martin A" last="Haagmans">Martin A. Haagmans</name><name sortKey="Hennekam, Raoul C" sort="Hennekam, Raoul C" uniqKey="Hennekam R" first="Raoul C" last="Hennekam">Raoul C. Hennekam</name><name sortKey="Majoie, Charles B" sort="Majoie, Charles B" uniqKey="Majoie C" first="Charles B" last="Majoie">Charles B. Majoie</name><name sortKey="Mannens, Marcel M" sort="Mannens, Marcel M" uniqKey="Mannens M" first="Marcel M" last="Mannens">Marcel M. Mannens</name><name sortKey="Mook, Olaf R" sort="Mook, Olaf R" uniqKey="Mook O" first="Olaf R" last="Mook">Olaf R. Mook</name><name sortKey="Salehi, Faranak" sort="Salehi, Faranak" uniqKey="Salehi F" first="Faranak" last="Salehi">Faranak Salehi</name><name sortKey="Tuysuz, Beyhan" sort="Tuysuz, Beyhan" uniqKey="Tuysuz B" first="Beyhan" last="Tuysuz">Beyhan Tuysuz</name></noCountry><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Alders, Marielle" sort="Alders, Marielle" uniqKey="Alders M" first="Mariëlle" last="Alders">Mariëlle Alders</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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