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Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies
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| Zeitschriftentitel: | Molecular Genetics & Genomic Medicine |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , |
| In: | Molecular Genetics & Genomic Medicine, 7, 2019, 5 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
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| Schlagwörter: |
| author_facet |
Chacon‐Camacho, Oscar F. Lopez‐Moreno, Daniel Morales‐Sanchez, Martha A. Hofmann, Enriqueta Pacheco‐Quito, Michelle Wieland, Ilse Cortes‐Gonzalez, Vianney Villanueva‐Mendoza, Cristina Zenker, Martin Zenteno, Juan Carlos Chacon‐Camacho, Oscar F. Lopez‐Moreno, Daniel Morales‐Sanchez, Martha A. Hofmann, Enriqueta Pacheco‐Quito, Michelle Wieland, Ilse Cortes‐Gonzalez, Vianney Villanueva‐Mendoza, Cristina Zenker, Martin Zenteno, Juan Carlos |
|---|---|
| author |
Chacon‐Camacho, Oscar F. Lopez‐Moreno, Daniel Morales‐Sanchez, Martha A. Hofmann, Enriqueta Pacheco‐Quito, Michelle Wieland, Ilse Cortes‐Gonzalez, Vianney Villanueva‐Mendoza, Cristina Zenker, Martin Zenteno, Juan Carlos |
| spellingShingle |
Chacon‐Camacho, Oscar F. Lopez‐Moreno, Daniel Morales‐Sanchez, Martha A. Hofmann, Enriqueta Pacheco‐Quito, Michelle Wieland, Ilse Cortes‐Gonzalez, Vianney Villanueva‐Mendoza, Cristina Zenker, Martin Zenteno, Juan Carlos Molecular Genetics & Genomic Medicine Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies Genetics (clinical) Genetics Molecular Biology |
| author_sort |
chacon‐camacho, oscar f. |
| spelling |
Chacon‐Camacho, Oscar F. Lopez‐Moreno, Daniel Morales‐Sanchez, Martha A. Hofmann, Enriqueta Pacheco‐Quito, Michelle Wieland, Ilse Cortes‐Gonzalez, Vianney Villanueva‐Mendoza, Cristina Zenker, Martin Zenteno, Juan Carlos 2324-9269 2324-9269 Wiley Genetics (clinical) Genetics Molecular Biology http://dx.doi.org/10.1002/mgg3.625 <jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Postzygotic <jats:italic>KRAS</jats:italic>, <jats:italic>HRAS</jats:italic>, <jats:italic>NRAS</jats:italic>, and <jats:italic>FGFR1</jats:italic> mutations result in a group of mosaic RASopathies characterized by related developmental anomalies in eye, skin, heart, and brain. These oculocutaneous disorders include oculoectodermal syndrome (OES) encephalo‐cranio‐cutaneous lipomatosis (ECCL), and Schimmelpenning‐Feuerstein‐Mims syndrome (SFMS). Here, we report the results of the clinical and molecular characterization of a novel cohort of patients with oculocutaneous mosaic RASopathies.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Two OES, two ECCL, and two SFMS patients were ascertained in the study. In addition, two subjects with unilateral isolated epibulbar dermoids were also enrolled. Molecular analysis included PCR amplification and Sanger sequencing of <jats:italic>KRAS</jats:italic>, <jats:italic>HRAS</jats:italic>, <jats:italic>NRAS</jats:italic>, and <jats:italic>FGFR1</jats:italic> genes in DNA obtained from biopsies (skin/epibulbar dermoids), buccal mucosa, and blood leukocytes. Massive parallel sequencing was employed in two cases with low‐level mosaicism.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>In DNA from biopsies, mosaicism for pathogenic variants, including KRAS p.Ala146Thr in two OES subjects, FGFR1 p.Asn546Lys and KRAS p.Ala146Val in ECCL patients, and KRAS p.Gly12Asp in both SFMS patients, was demonstrated. No mutations were shown in DNA from conjunctival lesions in two subjects with isolated epibubar dermoids.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Our study allowed the expansion of the clinical spectrum of mosaic RASopathies and supports that mosaicism for recurrent mutations in <jats:italic>KRAS </jats:italic>and <jats:italic>FGFR1 </jats:italic>is a commonly involved mechanism in these rare oculocutaneous anomalies.</jats:p></jats:sec> Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies Molecular Genetics & Genomic Medicine |
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10.1002/mgg3.625 |
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Wiley, 2019 |
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Molecular Genetics & Genomic Medicine |
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| title |
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies |
| title_unstemmed |
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies |
| title_full |
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies |
| title_fullStr |
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies |
| title_full_unstemmed |
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies |
| title_short |
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies |
| title_sort |
expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic rasopathies |
| topic |
Genetics (clinical) Genetics Molecular Biology |
| url |
http://dx.doi.org/10.1002/mgg3.625 |
| publishDate |
2019 |
| physical |
|
| description |
<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Postzygotic <jats:italic>KRAS</jats:italic>, <jats:italic>HRAS</jats:italic>, <jats:italic>NRAS</jats:italic>, and <jats:italic>FGFR1</jats:italic> mutations result in a group of mosaic RASopathies characterized by related developmental anomalies in eye, skin, heart, and brain. These oculocutaneous disorders include oculoectodermal syndrome (OES) encephalo‐cranio‐cutaneous lipomatosis (ECCL), and Schimmelpenning‐Feuerstein‐Mims syndrome (SFMS). Here, we report the results of the clinical and molecular characterization of a novel cohort of patients with oculocutaneous mosaic RASopathies.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Two OES, two ECCL, and two SFMS patients were ascertained in the study. In addition, two subjects with unilateral isolated epibulbar dermoids were also enrolled. Molecular analysis included PCR amplification and Sanger sequencing of <jats:italic>KRAS</jats:italic>, <jats:italic>HRAS</jats:italic>, <jats:italic>NRAS</jats:italic>, and <jats:italic>FGFR1</jats:italic> genes in DNA obtained from biopsies (skin/epibulbar dermoids), buccal mucosa, and blood leukocytes. Massive parallel sequencing was employed in two cases with low‐level mosaicism.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>In DNA from biopsies, mosaicism for pathogenic variants, including KRAS p.Ala146Thr in two OES subjects, FGFR1 p.Asn546Lys and KRAS p.Ala146Val in ECCL patients, and KRAS p.Gly12Asp in both SFMS patients, was demonstrated. No mutations were shown in DNA from conjunctival lesions in two subjects with isolated epibubar dermoids.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Our study allowed the expansion of the clinical spectrum of mosaic RASopathies and supports that mosaicism for recurrent mutations in <jats:italic>KRAS </jats:italic>and <jats:italic>FGFR1 </jats:italic>is a commonly involved mechanism in these rare oculocutaneous anomalies.</jats:p></jats:sec> |
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| author | Chacon‐Camacho, Oscar F., Lopez‐Moreno, Daniel, Morales‐Sanchez, Martha A., Hofmann, Enriqueta, Pacheco‐Quito, Michelle, Wieland, Ilse, Cortes‐Gonzalez, Vianney, Villanueva‐Mendoza, Cristina, Zenker, Martin, Zenteno, Juan Carlos |
| author_facet | Chacon‐Camacho, Oscar F., Lopez‐Moreno, Daniel, Morales‐Sanchez, Martha A., Hofmann, Enriqueta, Pacheco‐Quito, Michelle, Wieland, Ilse, Cortes‐Gonzalez, Vianney, Villanueva‐Mendoza, Cristina, Zenker, Martin, Zenteno, Juan Carlos, Chacon‐Camacho, Oscar F., Lopez‐Moreno, Daniel, Morales‐Sanchez, Martha A., Hofmann, Enriqueta, Pacheco‐Quito, Michelle, Wieland, Ilse, Cortes‐Gonzalez, Vianney, Villanueva‐Mendoza, Cristina, Zenker, Martin, Zenteno, Juan Carlos |
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| description | <jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Postzygotic <jats:italic>KRAS</jats:italic>, <jats:italic>HRAS</jats:italic>, <jats:italic>NRAS</jats:italic>, and <jats:italic>FGFR1</jats:italic> mutations result in a group of mosaic RASopathies characterized by related developmental anomalies in eye, skin, heart, and brain. These oculocutaneous disorders include oculoectodermal syndrome (OES) encephalo‐cranio‐cutaneous lipomatosis (ECCL), and Schimmelpenning‐Feuerstein‐Mims syndrome (SFMS). Here, we report the results of the clinical and molecular characterization of a novel cohort of patients with oculocutaneous mosaic RASopathies.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Two OES, two ECCL, and two SFMS patients were ascertained in the study. In addition, two subjects with unilateral isolated epibulbar dermoids were also enrolled. Molecular analysis included PCR amplification and Sanger sequencing of <jats:italic>KRAS</jats:italic>, <jats:italic>HRAS</jats:italic>, <jats:italic>NRAS</jats:italic>, and <jats:italic>FGFR1</jats:italic> genes in DNA obtained from biopsies (skin/epibulbar dermoids), buccal mucosa, and blood leukocytes. Massive parallel sequencing was employed in two cases with low‐level mosaicism.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>In DNA from biopsies, mosaicism for pathogenic variants, including KRAS p.Ala146Thr in two OES subjects, FGFR1 p.Asn546Lys and KRAS p.Ala146Val in ECCL patients, and KRAS p.Gly12Asp in both SFMS patients, was demonstrated. No mutations were shown in DNA from conjunctival lesions in two subjects with isolated epibubar dermoids.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Our study allowed the expansion of the clinical spectrum of mosaic RASopathies and supports that mosaicism for recurrent mutations in <jats:italic>KRAS </jats:italic>and <jats:italic>FGFR1 </jats:italic>is a commonly involved mechanism in these rare oculocutaneous anomalies.</jats:p></jats:sec> |
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| imprint | Wiley, 2019 |
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| spelling | Chacon‐Camacho, Oscar F. Lopez‐Moreno, Daniel Morales‐Sanchez, Martha A. Hofmann, Enriqueta Pacheco‐Quito, Michelle Wieland, Ilse Cortes‐Gonzalez, Vianney Villanueva‐Mendoza, Cristina Zenker, Martin Zenteno, Juan Carlos 2324-9269 2324-9269 Wiley Genetics (clinical) Genetics Molecular Biology http://dx.doi.org/10.1002/mgg3.625 <jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Postzygotic <jats:italic>KRAS</jats:italic>, <jats:italic>HRAS</jats:italic>, <jats:italic>NRAS</jats:italic>, and <jats:italic>FGFR1</jats:italic> mutations result in a group of mosaic RASopathies characterized by related developmental anomalies in eye, skin, heart, and brain. These oculocutaneous disorders include oculoectodermal syndrome (OES) encephalo‐cranio‐cutaneous lipomatosis (ECCL), and Schimmelpenning‐Feuerstein‐Mims syndrome (SFMS). Here, we report the results of the clinical and molecular characterization of a novel cohort of patients with oculocutaneous mosaic RASopathies.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Two OES, two ECCL, and two SFMS patients were ascertained in the study. In addition, two subjects with unilateral isolated epibulbar dermoids were also enrolled. Molecular analysis included PCR amplification and Sanger sequencing of <jats:italic>KRAS</jats:italic>, <jats:italic>HRAS</jats:italic>, <jats:italic>NRAS</jats:italic>, and <jats:italic>FGFR1</jats:italic> genes in DNA obtained from biopsies (skin/epibulbar dermoids), buccal mucosa, and blood leukocytes. Massive parallel sequencing was employed in two cases with low‐level mosaicism.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>In DNA from biopsies, mosaicism for pathogenic variants, including KRAS p.Ala146Thr in two OES subjects, FGFR1 p.Asn546Lys and KRAS p.Ala146Val in ECCL patients, and KRAS p.Gly12Asp in both SFMS patients, was demonstrated. No mutations were shown in DNA from conjunctival lesions in two subjects with isolated epibubar dermoids.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Our study allowed the expansion of the clinical spectrum of mosaic RASopathies and supports that mosaicism for recurrent mutations in <jats:italic>KRAS </jats:italic>and <jats:italic>FGFR1 </jats:italic>is a commonly involved mechanism in these rare oculocutaneous anomalies.</jats:p></jats:sec> Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies Molecular Genetics & Genomic Medicine |
| spellingShingle | Chacon‐Camacho, Oscar F., Lopez‐Moreno, Daniel, Morales‐Sanchez, Martha A., Hofmann, Enriqueta, Pacheco‐Quito, Michelle, Wieland, Ilse, Cortes‐Gonzalez, Vianney, Villanueva‐Mendoza, Cristina, Zenker, Martin, Zenteno, Juan Carlos, Molecular Genetics & Genomic Medicine, Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies, Genetics (clinical), Genetics, Molecular Biology |
| title | Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies |
| title_full | Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies |
| title_fullStr | Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies |
| title_full_unstemmed | Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies |
| title_short | Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies |
| title_sort | expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic rasopathies |
| title_unstemmed | Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies |
| topic | Genetics (clinical), Genetics, Molecular Biology |
| url | http://dx.doi.org/10.1002/mgg3.625 |