Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

Valérie Cormier-Daire and colleagues report the identification of mutations in SMAD4 that cause Myhre syndrome, a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay. All of the mutations alter a single c...

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Veröffentlicht in:	Nature genetics Jg. 44; H. 1; S. 85 - 88
Hauptverfasser:	Le Goff, Carine, Mahaut, Clémentine, Abhyankar, Avinash, Le Goff, Wilfried, Serre, Valérie, Afenjar, Alexandra, Destrée, Anne, di Rocco, Maja, Héron, Delphine, Jacquemont, Sébastien, Marlin, Sandrine, Simon, Marleen, Tolmie, John, Verloes, Alain, Casanova, Jean-Laurent, Munnich, Arnold, Cormier-Daire, Valérie
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	New York Nature Publishing Group US 01.01.2012 Nature Publishing Group
Schlagworte:	631/208/2489/144 631/208/737 Agriculture Animal Genetics and Genomics Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Child development deviations Codon Complex syndromes Cryptorchidism - genetics Developmental disabilities Facies Fibroblasts - metabolism Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genes Genetic aspects Genetics Genetics of eukaryotes. Biological and molecular evolution Growth Disorders - genetics Hand Deformities, Congenital - genetics Health aspects Human Genetics Humans Hypertrophy - genetics Intellectual Disability - genetics Joint Diseases - genetics letter Life Sciences Medical genetics Medical sciences Mutation Phosphorylation Physiological aspects Risk factors Signal transduction Smad4 Protein - genetics Studies Transforming growth factors Ubiquitination France Homology Smad protein Codon Mutation Syndrome Homeotic gene
ISSN:	1061-4036, 1546-1718, 1546-1718
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Abstract	Valérie Cormier-Daire and colleagues report the identification of mutations in SMAD4 that cause Myhre syndrome, a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay. All of the mutations alter a single codon in the Mad Homology 2 domain of SMAD4. Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay. Using exome sequencing of individuals with Myhre syndrome, we identified SMAD4 as a candidate gene that contributes to this syndrome on the basis of its pivotal role in the bone morphogenetic pathway (BMP) and transforming growth factor (TGF)-β signaling. We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome. All three mutations are located in the region of SMAD4 encoding the Mad homology 2 (MH2) domain near the site of monoubiquitination at Lys519, and we found a defect in SMAD4 ubiquitination in fibroblasts from affected individuals. We also observed decreased expression of downstream TGF-β target genes, supporting the idea of impaired TGF-β–mediated transcriptional control in individuals with Myhre syndrome.
AbstractList	Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay. Using exome sequencing of individuals with Myhre syndrome, we identified SMAD4 as a candidate gene that contributes to this syndrome on the basis of its pivotal role in the bone morphogenetic pathway (BMP) and transforming growth factor (TGF)-β signaling. We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome. All three mutations are located in the region of SMAD4 encoding the Mad homology 2 (MH2) domain near the site of monoubiquitination at Lys519, and we found a defect in SMAD4 ubiquitination in fibroblasts from affected individuals. We also observed decreased expression of downstream TGF-β target genes, supporting the idea of impaired TGF-β-mediated transcriptional control in individuals with Myhre syndrome. Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay. Using exome sequencing of individuals with Myhre syndrome, we identified SMAD4 as a candidate gene that contributes to this syndrome on the basis of its pivotal role in the bone morphogenetic pathway (BMP) and transforming growth factor (TGF)-β signaling. We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome. All three mutations are located in the region of SMAD4 encoding the Mad homology 2 (MH2) domain near the site of monoubiquitination at Lys519, and we found a defect in SMAD4 ubiquitination in fibroblasts from affected individuals. We also observed decreased expression of downstream TGF-β target genes, supporting the idea of impaired TGF-β-mediated transcriptional control in individuals with Myhre syndrome.Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay. Using exome sequencing of individuals with Myhre syndrome, we identified SMAD4 as a candidate gene that contributes to this syndrome on the basis of its pivotal role in the bone morphogenetic pathway (BMP) and transforming growth factor (TGF)-β signaling. We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome. All three mutations are located in the region of SMAD4 encoding the Mad homology 2 (MH2) domain near the site of monoubiquitination at Lys519, and we found a defect in SMAD4 ubiquitination in fibroblasts from affected individuals. We also observed decreased expression of downstream TGF-β target genes, supporting the idea of impaired TGF-β-mediated transcriptional control in individuals with Myhre syndrome. Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay. Using exome sequencing of individuals with Myhre syndrome, we identified SMAD4 as a candidate gene that contributes to this syndrome on the basis of its pivotal role in the bone morphogenetic pathway (BMP) and transforming growth factor (TGF)-β signaling. We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome. All three mutations are located in the region of SMAD4 encoding the Mad homology 2 (MH2) domain near the site of monoubiquitination at Lys519, and we found a defect in SMAD4 ubiquitination in fibroblasts from affected individuals. We also observed decreased expression of downstream TGF-β target genes, supporting the idea of impaired TGF-β-mediated transcriptional control in individuals with Myhre syndrome. [PUBLICATION ABSTRACT] Valérie Cormier-Daire and colleagues report the identification of mutations in SMAD4 that cause Myhre syndrome, a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay. All of the mutations alter a single codon in the Mad Homology 2 domain of SMAD4. Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay. Using exome sequencing of individuals with Myhre syndrome, we identified SMAD4 as a candidate gene that contributes to this syndrome on the basis of its pivotal role in the bone morphogenetic pathway (BMP) and transforming growth factor (TGF)-β signaling. We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome. All three mutations are located in the region of SMAD4 encoding the Mad homology 2 (MH2) domain near the site of monoubiquitination at Lys519, and we found a defect in SMAD4 ubiquitination in fibroblasts from affected individuals. We also observed decreased expression of downstream TGF-β target genes, supporting the idea of impaired TGF-β–mediated transcriptional control in individuals with Myhre syndrome. Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay. Using exome sequencing of individuals with Myhre syndrome, we identified SMAD4 as a candidate gene that contributes to this syndrome on the basis of its pivotal role in the bone morphogenetic pathway (BMP) and transforming growth factor (TGF)- beta signaling. We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome. All three mutations are located in the region of SMAD4 encoding the Mad homology 2 (MH2) domain near the site of monoubiquitination at Lys519, and we found a defect in SMAD4 ubiquitination in fibroblasts from affected individuals. We also observed decreased expression of downstream TGF- beta target genes, supporting the idea of impaired TGF- beta -mediated transcriptional control in individuals with Myhre syndrome.
Audience	Academic
Author	Cormier-Daire, Valérie Afenjar, Alexandra Abhyankar, Avinash Le Goff, Wilfried Tolmie, John Mahaut, Clémentine Héron, Delphine Verloes, Alain Serre, Valérie Casanova, Jean-Laurent Le Goff, Carine Destrée, Anne Munnich, Arnold di Rocco, Maja Jacquemont, Sébastien Marlin, Sandrine Simon, Marleen
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Snippet	Valérie Cormier-Daire and colleagues report the identification of mutations in SMAD4 that cause Myhre syndrome, a developmental disorder characterized by short... Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy,...
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SubjectTerms	631/208/2489/144 631/208/737 Agriculture Animal Genetics and Genomics Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Child development deviations Codon Complex syndromes Cryptorchidism - genetics Developmental disabilities Facies Fibroblasts - metabolism Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genes Genetic aspects Genetics Genetics of eukaryotes. Biological and molecular evolution Growth Disorders - genetics Hand Deformities, Congenital - genetics Health aspects Human Genetics Humans Hypertrophy - genetics Intellectual Disability - genetics Joint Diseases - genetics letter Life Sciences Medical genetics Medical sciences Mutation Phosphorylation Physiological aspects Risk factors Signal transduction Smad4 Protein - genetics Studies Transforming growth factors Ubiquitination
Title	Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
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