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De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome
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| Zeitschriftentitel: | Molecular Genetics & Genomic Medicine |
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| Personen und Körperschaften: | , , , , , , |
| In: | Molecular Genetics & Genomic Medicine, 7, 2019, 12 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
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| Schlagwörter: |
| author_facet |
Pranckėnienė, Laura Siavrienė, Evelina Gueneau, Lucie Preikšaitienė, Eglė Mikštienė, Violeta Reymond, Alexandre Kučinskas, Vaidutis Pranckėnienė, Laura Siavrienė, Evelina Gueneau, Lucie Preikšaitienė, Eglė Mikštienė, Violeta Reymond, Alexandre Kučinskas, Vaidutis |
|---|---|
| author |
Pranckėnienė, Laura Siavrienė, Evelina Gueneau, Lucie Preikšaitienė, Eglė Mikštienė, Violeta Reymond, Alexandre Kučinskas, Vaidutis |
| spellingShingle |
Pranckėnienė, Laura Siavrienė, Evelina Gueneau, Lucie Preikšaitienė, Eglė Mikštienė, Violeta Reymond, Alexandre Kučinskas, Vaidutis Molecular Genetics & Genomic Medicine De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome Genetics (clinical) Genetics Molecular Biology |
| author_sort |
pranckėnienė, laura |
| spelling |
Pranckėnienė, Laura Siavrienė, Evelina Gueneau, Lucie Preikšaitienė, Eglė Mikštienė, Violeta Reymond, Alexandre Kučinskas, Vaidutis 2324-9269 2324-9269 Wiley Genetics (clinical) Genetics Molecular Biology http://dx.doi.org/10.1002/mgg3.1006 <jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Coffin–Siris syndrome is an extremely rare syndrome associated with developmental and congenital anomalies. It is caused by heterozygous pathogenic variants of <jats:italic>ARID1A</jats:italic>, <jats:italic>ARID1B</jats:italic>, <jats:italic>SMARCA4</jats:italic>, <jats:italic>SMARCB1</jats:italic>, <jats:italic>SMARCE1</jats:italic>, and <jats:italic>SOX11</jats:italic>.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>This case study presents the whole exome sequencing of a patient with characteristic clinical features of Coffin–Siris syndrome. Analysis included Sanger sequencing of complementary DNA and bioinformatic analysis of the variant.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Analysis of cDNA Sanger sequencing data revealed that the donor splice site variant led to skipping of exon 19. Further, bioinformatic analysis predicted abnormal splicing in a translational frameshift of 11 amino acids and the creation of a premature termination codon. Results found a novel de novo splice site variant c.5025+2T>C in the <jats:italic>ARID1B</jats:italic> and truncated 1 633 amino acid protein NP_065783.3:p. (Thr1633Valfs*11).</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Truncated ARID1B resulted in loss of the BAF250 domain, which is part of SWI/SNF‐like ATP‐dependent chromatin remodeling complex. The severe clinical manifestation presented by the proband was attributed to the disappearance of the BAF250 domain in the ARID1B protein. Our finding provides strong evidence that this pathogenic variant of exon 19 caused a frameshift mutation in the <jats:italic>ARID1B</jats:italic> at the terminal exon, resulting in the expression of a severe phenotype of CSS.</jats:p></jats:sec> De novo splice site variant of <i>ARID1B</i> associated with pathogenesis of Coffin–Siris syndrome Molecular Genetics & Genomic Medicine |
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10.1002/mgg3.1006 |
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| title |
De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome |
| title_unstemmed |
De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome |
| title_full |
De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome |
| title_fullStr |
De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome |
| title_full_unstemmed |
De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome |
| title_short |
De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome |
| title_sort |
de novo splice site variant of <i>arid1b</i> associated with pathogenesis of coffin–siris syndrome |
| topic |
Genetics (clinical) Genetics Molecular Biology |
| url |
http://dx.doi.org/10.1002/mgg3.1006 |
| publishDate |
2019 |
| physical |
|
| description |
<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Coffin–Siris syndrome is an extremely rare syndrome associated with developmental and congenital anomalies. It is caused by heterozygous pathogenic variants of <jats:italic>ARID1A</jats:italic>, <jats:italic>ARID1B</jats:italic>, <jats:italic>SMARCA4</jats:italic>, <jats:italic>SMARCB1</jats:italic>, <jats:italic>SMARCE1</jats:italic>, and <jats:italic>SOX11</jats:italic>.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>This case study presents the whole exome sequencing of a patient with characteristic clinical features of Coffin–Siris syndrome. Analysis included Sanger sequencing of complementary DNA and bioinformatic analysis of the variant.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Analysis of cDNA Sanger sequencing data revealed that the donor splice site variant led to skipping of exon 19. Further, bioinformatic analysis predicted abnormal splicing in a translational frameshift of 11 amino acids and the creation of a premature termination codon. Results found a novel de novo splice site variant c.5025+2T>C in the <jats:italic>ARID1B</jats:italic> and truncated 1 633 amino acid protein NP_065783.3:p. (Thr1633Valfs*11).</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Truncated ARID1B resulted in loss of the BAF250 domain, which is part of SWI/SNF‐like ATP‐dependent chromatin remodeling complex. The severe clinical manifestation presented by the proband was attributed to the disappearance of the BAF250 domain in the ARID1B protein. Our finding provides strong evidence that this pathogenic variant of exon 19 caused a frameshift mutation in the <jats:italic>ARID1B</jats:italic> at the terminal exon, resulting in the expression of a severe phenotype of CSS.</jats:p></jats:sec> |
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| author | Pranckėnienė, Laura, Siavrienė, Evelina, Gueneau, Lucie, Preikšaitienė, Eglė, Mikštienė, Violeta, Reymond, Alexandre, Kučinskas, Vaidutis |
| author_facet | Pranckėnienė, Laura, Siavrienė, Evelina, Gueneau, Lucie, Preikšaitienė, Eglė, Mikštienė, Violeta, Reymond, Alexandre, Kučinskas, Vaidutis, Pranckėnienė, Laura, Siavrienė, Evelina, Gueneau, Lucie, Preikšaitienė, Eglė, Mikštienė, Violeta, Reymond, Alexandre, Kučinskas, Vaidutis |
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| description | <jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Coffin–Siris syndrome is an extremely rare syndrome associated with developmental and congenital anomalies. It is caused by heterozygous pathogenic variants of <jats:italic>ARID1A</jats:italic>, <jats:italic>ARID1B</jats:italic>, <jats:italic>SMARCA4</jats:italic>, <jats:italic>SMARCB1</jats:italic>, <jats:italic>SMARCE1</jats:italic>, and <jats:italic>SOX11</jats:italic>.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>This case study presents the whole exome sequencing of a patient with characteristic clinical features of Coffin–Siris syndrome. Analysis included Sanger sequencing of complementary DNA and bioinformatic analysis of the variant.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Analysis of cDNA Sanger sequencing data revealed that the donor splice site variant led to skipping of exon 19. Further, bioinformatic analysis predicted abnormal splicing in a translational frameshift of 11 amino acids and the creation of a premature termination codon. Results found a novel de novo splice site variant c.5025+2T>C in the <jats:italic>ARID1B</jats:italic> and truncated 1 633 amino acid protein NP_065783.3:p. (Thr1633Valfs*11).</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Truncated ARID1B resulted in loss of the BAF250 domain, which is part of SWI/SNF‐like ATP‐dependent chromatin remodeling complex. The severe clinical manifestation presented by the proband was attributed to the disappearance of the BAF250 domain in the ARID1B protein. Our finding provides strong evidence that this pathogenic variant of exon 19 caused a frameshift mutation in the <jats:italic>ARID1B</jats:italic> at the terminal exon, resulting in the expression of a severe phenotype of CSS.</jats:p></jats:sec> |
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| spelling | Pranckėnienė, Laura Siavrienė, Evelina Gueneau, Lucie Preikšaitienė, Eglė Mikštienė, Violeta Reymond, Alexandre Kučinskas, Vaidutis 2324-9269 2324-9269 Wiley Genetics (clinical) Genetics Molecular Biology http://dx.doi.org/10.1002/mgg3.1006 <jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Coffin–Siris syndrome is an extremely rare syndrome associated with developmental and congenital anomalies. It is caused by heterozygous pathogenic variants of <jats:italic>ARID1A</jats:italic>, <jats:italic>ARID1B</jats:italic>, <jats:italic>SMARCA4</jats:italic>, <jats:italic>SMARCB1</jats:italic>, <jats:italic>SMARCE1</jats:italic>, and <jats:italic>SOX11</jats:italic>.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>This case study presents the whole exome sequencing of a patient with characteristic clinical features of Coffin–Siris syndrome. Analysis included Sanger sequencing of complementary DNA and bioinformatic analysis of the variant.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Analysis of cDNA Sanger sequencing data revealed that the donor splice site variant led to skipping of exon 19. Further, bioinformatic analysis predicted abnormal splicing in a translational frameshift of 11 amino acids and the creation of a premature termination codon. Results found a novel de novo splice site variant c.5025+2T>C in the <jats:italic>ARID1B</jats:italic> and truncated 1 633 amino acid protein NP_065783.3:p. (Thr1633Valfs*11).</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Truncated ARID1B resulted in loss of the BAF250 domain, which is part of SWI/SNF‐like ATP‐dependent chromatin remodeling complex. The severe clinical manifestation presented by the proband was attributed to the disappearance of the BAF250 domain in the ARID1B protein. Our finding provides strong evidence that this pathogenic variant of exon 19 caused a frameshift mutation in the <jats:italic>ARID1B</jats:italic> at the terminal exon, resulting in the expression of a severe phenotype of CSS.</jats:p></jats:sec> De novo splice site variant of <i>ARID1B</i> associated with pathogenesis of Coffin–Siris syndrome Molecular Genetics & Genomic Medicine |
| spellingShingle | Pranckėnienė, Laura, Siavrienė, Evelina, Gueneau, Lucie, Preikšaitienė, Eglė, Mikštienė, Violeta, Reymond, Alexandre, Kučinskas, Vaidutis, Molecular Genetics & Genomic Medicine, De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome, Genetics (clinical), Genetics, Molecular Biology |
| title | De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome |
| title_full | De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome |
| title_fullStr | De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome |
| title_full_unstemmed | De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome |
| title_short | De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome |
| title_sort | de novo splice site variant of <i>arid1b</i> associated with pathogenesis of coffin–siris syndrome |
| title_unstemmed | De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome |
| topic | Genetics (clinical), Genetics, Molecular Biology |
| url | http://dx.doi.org/10.1002/mgg3.1006 |