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Autor Carolina Baquero Montoya
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Comentario :
Médica Pediatra Especialista en Genética Clínica y Metabolismo, Hospital Pablo Tobón Uribe
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Documentos disponibles escritos por este autor (11)
Clasificado(s) por (Año de edición descendente) Refinar búsquedaDescription of ocular pathologies in patients with mucopolisacaridosis type iva (Morquio) in medellin, Colombia / Torres Yepes, Valeria ; Giraldo Ospina, Gustavo Adolfo ; Carolina Baquero Montoya ; Maya Naranjo, María Isabel ; Mesa Mesa, Sara ; Piedrahita Botero, Maria Adelaida ; Castaño Álzate, Carlos Felipe ; López López, Lucelly
Título : Description of ocular pathologies in patients with mucopolisacaridosis type iva (Morquio) in medellin, Colombia Tipo de documento : documento electrónico Autores : Torres Yepes, Valeria, Autor ; Giraldo Ospina, Gustavo Adolfo, Autor ; Carolina Baquero Montoya, Autor ; Maya Naranjo, María Isabel, Autor ; Mesa Mesa, Sara, Autor ; Piedrahita Botero, Maria Adelaida, Autor ; Castaño Álzate, Carlos Felipe, Autor ; López López, Lucelly, Autor Fecha de publicación : 2025 Títulos uniformes : Ophthalmic Genetics Idioma : Inglés (eng) Palabras clave : Mucopolysaccharidosis IV; cataract; opacity of the cornea; refractive errors. Resumen : Introduction: This original study presents an investigation of ophthalmological manifestations in Mucopolysaccharidosis IVA, a rare genetic disorder with limited characterization, particularly of ocular findings. Purpose: To describe the ophthalmological manifestations in patients with Morquio disease in Medellín, Colombia. Study design and methodology: A cross-sectional study was conducted with 23 patients diagnosed with Morquio syndrome. They underwent a comprehensive ophthalmological evaluation, and clinical findings were recorded in an online Excel sheet. Descriptive statistical methods were then applied, with data reported as absolute frequencies and percentages. Results: Refractive defects were found in 100% of patients, primarily hyperopia. Cataracts were the next most common finding (71%), particularly of the starry nuclear type. Corneal stromal opacity was observed in 60%, with 55% in children. In this group, 40% had moderate severity and 20% had total opacity. In adults, stromal opacity was present in 60%, with 66% showing moderate severity. Conclusion: Most Morquio disease patients in Antioquia exhibit refractive defects, with hyperopia being the most common. Among physical examination findings, stromal corneal opacity and starry nuclear cataracts were the most prevalent. Mención de responsabilidad : Maria Isabel Maya Naranjo, Sara Mesa Mesa, Valeria Torres Yepes, Gustavo Adolfo Giraldo Ospina, Maria Adelaida Piedrahita Botero, Carolina Baquero-Montoya, Carlos Felipe Castaño Alzate, Lucelly López López Referencia : Ophthalmic Genet. 2025 May 14:1-5. doi: 10.1080/13816810.2025.2503394. Online ahead of print. DOI (Digital Object Identifier) : 10.1080/13816810.2025.2503394 PMID : 40366728 Derechos de uso : CC BY-NC-ND En línea : https://www.tandfonline.com/doi/abs/10.1080/13816810.2025.2503394 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_dis Description of ocular pathologies in patients with mucopolisacaridosis type iva (Morquio) in medellin, Colombia [documento electrónico] / Torres Yepes, Valeria, Autor ; Giraldo Ospina, Gustavo Adolfo, Autor ; Carolina Baquero Montoya, Autor ; Maya Naranjo, María Isabel, Autor ; Mesa Mesa, Sara, Autor ; Piedrahita Botero, Maria Adelaida, Autor ; Castaño Álzate, Carlos Felipe, Autor ; López López, Lucelly, Autor . - 2025.
Obra : Ophthalmic Genetics
Idioma : Inglés (eng)
Palabras clave : Mucopolysaccharidosis IV; cataract; opacity of the cornea; refractive errors. Resumen : Introduction: This original study presents an investigation of ophthalmological manifestations in Mucopolysaccharidosis IVA, a rare genetic disorder with limited characterization, particularly of ocular findings. Purpose: To describe the ophthalmological manifestations in patients with Morquio disease in Medellín, Colombia. Study design and methodology: A cross-sectional study was conducted with 23 patients diagnosed with Morquio syndrome. They underwent a comprehensive ophthalmological evaluation, and clinical findings were recorded in an online Excel sheet. Descriptive statistical methods were then applied, with data reported as absolute frequencies and percentages. Results: Refractive defects were found in 100% of patients, primarily hyperopia. Cataracts were the next most common finding (71%), particularly of the starry nuclear type. Corneal stromal opacity was observed in 60%, with 55% in children. In this group, 40% had moderate severity and 20% had total opacity. In adults, stromal opacity was present in 60%, with 66% showing moderate severity. Conclusion: Most Morquio disease patients in Antioquia exhibit refractive defects, with hyperopia being the most common. Among physical examination findings, stromal corneal opacity and starry nuclear cataracts were the most prevalent. Mención de responsabilidad : Maria Isabel Maya Naranjo, Sara Mesa Mesa, Valeria Torres Yepes, Gustavo Adolfo Giraldo Ospina, Maria Adelaida Piedrahita Botero, Carolina Baquero-Montoya, Carlos Felipe Castaño Alzate, Lucelly López López Referencia : Ophthalmic Genet. 2025 May 14:1-5. doi: 10.1080/13816810.2025.2503394. Online ahead of print. DOI (Digital Object Identifier) : 10.1080/13816810.2025.2503394 PMID : 40366728 Derechos de uso : CC BY-NC-ND En línea : https://www.tandfonline.com/doi/abs/10.1080/13816810.2025.2503394 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_dis Reserva
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Título : ANKRD11 variants: KBG syndrome and beyond Tipo de documento : documento electrónico Autores : Carolina Baquero Montoya, Fecha de publicación : 2021 Títulos uniformes : Clinical Genetics Idioma : Inglés (eng) Palabras clave : ANKRD11 Cornelia de Lange syndrome (CdLS) KBG syndrome (KBGS) chromatinopathies developmental disorders Resumen : Mutations affecting the transcriptional regulator Ankyrin Repeat Domain 11 (ANKRD11) are mainly associated with the multisystem developmental disorder known as KBG syndrome, but have also been identified in individuals with Cornelia de Lange syndrome (CdLS) and other developmental disorders caused by variants affecting different chromatin regulators. The extensive functional overlap of these proteins results in shared phenotypical features, which complicate the assessment of the clinical diagnosis. Additionally, re-evaluation of individuals at a later age occasionally reveals that the initial phenotype has evolved toward clinical features more reminiscent of a developmental disorder different from the one that was initially diagnosed. For this reason, variants in ANKRD11 can be ascribed to a broader class of disorders that fall within the category of the so-called chromatinopathies. In this work, we report on the clinical characterization of 23 individuals with variants in ANKRD11. The subjects present primarily with developmental delay, intellectual disability and dysmorphic features, and all but two received an initial clinical diagnosis of either KBG syndrome or CdLS. The number and the severity of the clinical signs are overlapping but variable and result in a broad spectrum of phenotypes, which could be partially accounted for by the presence of additional molecular diagnoses and distinct pathogenic mechanisms. Mención de responsabilidad : Ilaria Parenti, Mark B. Mallozzi, Irina Hüning, Cristina Gervasini, Alma Kuechler, Emanuele Agolini, Beate Albrecht, Carolina Baquero-Montoya, Axel Bohring, Nuria C. Bramswig, Andreas Busche, Andreas Dalski, Yiran Guo, Britta Hanker, Yorck Hellenbroich, Denise Horn, A. Micheil Innes, Chiara Leoni, Yun R. Li, Sally Ann Lynch, Milena Mariani, Livija Medne, Barbara Mikat, Donatella Milani, Roberta Onesimo, Xilma Ortiz-Gonzalez, Eva Christina Prott, Heiko Reutter, Eva Rossier, Angelo Selicorni, Peter Wieacker, Alisha Wilkens, Dagmar Wieczorek, Elaine H. Zackai, Giuseppe Zampino, Birgit Zirn, Hakon Hakonarson, Matthew A. Deardorff, Gabriele Gillessen-Kaesbach, Frank J. Kaiser Referencia : Clin Genet. 2021 Aug;100(2):187-200 DOI (Digital Object Identifier) : 10.1111/cge.13977 PMID : 33955014 Derechos de uso : CC BY En línea : https://onlinelibrary.wiley.com/doi/10.1111/cge.13977 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_dis ANKRD11 variants: KBG syndrome and beyond [documento electrónico] / Carolina Baquero Montoya, . - 2021.
Obra : Clinical Genetics
Idioma : Inglés (eng)
Palabras clave : ANKRD11 Cornelia de Lange syndrome (CdLS) KBG syndrome (KBGS) chromatinopathies developmental disorders Resumen : Mutations affecting the transcriptional regulator Ankyrin Repeat Domain 11 (ANKRD11) are mainly associated with the multisystem developmental disorder known as KBG syndrome, but have also been identified in individuals with Cornelia de Lange syndrome (CdLS) and other developmental disorders caused by variants affecting different chromatin regulators. The extensive functional overlap of these proteins results in shared phenotypical features, which complicate the assessment of the clinical diagnosis. Additionally, re-evaluation of individuals at a later age occasionally reveals that the initial phenotype has evolved toward clinical features more reminiscent of a developmental disorder different from the one that was initially diagnosed. For this reason, variants in ANKRD11 can be ascribed to a broader class of disorders that fall within the category of the so-called chromatinopathies. In this work, we report on the clinical characterization of 23 individuals with variants in ANKRD11. The subjects present primarily with developmental delay, intellectual disability and dysmorphic features, and all but two received an initial clinical diagnosis of either KBG syndrome or CdLS. The number and the severity of the clinical signs are overlapping but variable and result in a broad spectrum of phenotypes, which could be partially accounted for by the presence of additional molecular diagnoses and distinct pathogenic mechanisms. Mención de responsabilidad : Ilaria Parenti, Mark B. Mallozzi, Irina Hüning, Cristina Gervasini, Alma Kuechler, Emanuele Agolini, Beate Albrecht, Carolina Baquero-Montoya, Axel Bohring, Nuria C. Bramswig, Andreas Busche, Andreas Dalski, Yiran Guo, Britta Hanker, Yorck Hellenbroich, Denise Horn, A. Micheil Innes, Chiara Leoni, Yun R. Li, Sally Ann Lynch, Milena Mariani, Livija Medne, Barbara Mikat, Donatella Milani, Roberta Onesimo, Xilma Ortiz-Gonzalez, Eva Christina Prott, Heiko Reutter, Eva Rossier, Angelo Selicorni, Peter Wieacker, Alisha Wilkens, Dagmar Wieczorek, Elaine H. Zackai, Giuseppe Zampino, Birgit Zirn, Hakon Hakonarson, Matthew A. Deardorff, Gabriele Gillessen-Kaesbach, Frank J. Kaiser Referencia : Clin Genet. 2021 Aug;100(2):187-200 DOI (Digital Object Identifier) : 10.1111/cge.13977 PMID : 33955014 Derechos de uso : CC BY En línea : https://onlinelibrary.wiley.com/doi/10.1111/cge.13977 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_dis Reserva
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Título : Enfermedad por almacenamiento de glucógeno de tipo III en pacientes colombianos: caracterización clínica y molecular Otros títulos : Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease Tipo de documento : documento electrónico Autores : Carolina Baquero Montoya, ; María Elsy Sepúlveda Hincapie, Fecha de publicación : 2018 Títulos uniformes : Biomédica Idioma : Español (spa) Palabras clave : Enfermedad del almacenamiento de glucógeno de tipo III/diagnóstico glucógeno sistema de la enzima desramificadora del glucógeno glucogenólisis Resumen : Introducción: La enfermedad por almacenamiento de glucógeno de tipo III es una alteración autosómica recesiva, en la cual las mutaciones del gen AGL causan una deficiencia en la enzima desramificadora de glucógeno. Se caracteriza por hipoglucemia, hepatomegalia y miopatías progresivas. El análisis molecular del gen AGL ha evidenciado mutaciones que difieren según la población estudiada. En la actualidad, no existen reportes que describan mutaciones en el AGL de pacientes colombianos con esta condición. Objetivo: Describir las características clínicas y moleculares de diez pacientes colombianos con enfermedad por almacenamiento del glucógeno de tipo III. Materiales y métodos: Se analizaron diez pacientes pediátricos colombianos con la enfermedad y se hizo su estudio genético mediante la secuenciación de las regiones que codifican y las intrónicas circundantes del gen AGL con el método de Sanger. Resultados: Todos los pacientes tenían el fenotipo clásico de la enfermedad. El estudio genético reveló la mutación p.Arg910X en dos pacientes. Uno presentó la mutación p.Glu1072AspfsX36 y otro resultó heterocigoto compuesto con las mutaciones p.Arg910X y p.Glu1072AspfsX36. Asimismo, en tres pacientes se detectó la deleción de los exones 4, 5 y 6 del gen AGL. Los estudios de simulación computacional predijeron que estos defectos eran patogénicos. En tres pacientes no se encontraron mutaciones en las regiones amplificadas. Conclusión: Se encontraron mutaciones y deleciones que explican el fenotipo clínico de los pacientes. Este es el primer reporte en el que se describe el fenotipo clínico y el espectro de mutaciones en el gen AGL de pacientes colombianos, lo cual es importante para ofrecer un apropiado pronóstico, y asesoría genética al paciente y a su familia. Mención de responsabilidad : Carolina Mantilla, Mónica Toro, María Elsy Sepúlveda, Margarita Insuasty, Diana Di Filippo, Juan Álvaro López, Carolina Baquero, María Cristina Navas, Andrés Augusto Arias Referencia : Biomedica. 2018 May 1;38(0):30-42. DOI (Digital Object Identifier) : 10.7705/biomedica.v38i0.3454 PMID : 29809327 En línea : https://www.revistabiomedica.org/index.php/biomedica/article/view/3454 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_dis Enfermedad por almacenamiento de glucógeno de tipo III en pacientes colombianos: caracterización clínica y molecular = Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease [documento electrónico] / Carolina Baquero Montoya, ; María Elsy Sepúlveda Hincapie, . - 2018.
Obra : Biomédica
Idioma : Español (spa)
Palabras clave : Enfermedad del almacenamiento de glucógeno de tipo III/diagnóstico glucógeno sistema de la enzima desramificadora del glucógeno glucogenólisis Resumen : Introducción: La enfermedad por almacenamiento de glucógeno de tipo III es una alteración autosómica recesiva, en la cual las mutaciones del gen AGL causan una deficiencia en la enzima desramificadora de glucógeno. Se caracteriza por hipoglucemia, hepatomegalia y miopatías progresivas. El análisis molecular del gen AGL ha evidenciado mutaciones que difieren según la población estudiada. En la actualidad, no existen reportes que describan mutaciones en el AGL de pacientes colombianos con esta condición. Objetivo: Describir las características clínicas y moleculares de diez pacientes colombianos con enfermedad por almacenamiento del glucógeno de tipo III. Materiales y métodos: Se analizaron diez pacientes pediátricos colombianos con la enfermedad y se hizo su estudio genético mediante la secuenciación de las regiones que codifican y las intrónicas circundantes del gen AGL con el método de Sanger. Resultados: Todos los pacientes tenían el fenotipo clásico de la enfermedad. El estudio genético reveló la mutación p.Arg910X en dos pacientes. Uno presentó la mutación p.Glu1072AspfsX36 y otro resultó heterocigoto compuesto con las mutaciones p.Arg910X y p.Glu1072AspfsX36. Asimismo, en tres pacientes se detectó la deleción de los exones 4, 5 y 6 del gen AGL. Los estudios de simulación computacional predijeron que estos defectos eran patogénicos. En tres pacientes no se encontraron mutaciones en las regiones amplificadas. Conclusión: Se encontraron mutaciones y deleciones que explican el fenotipo clínico de los pacientes. Este es el primer reporte en el que se describe el fenotipo clínico y el espectro de mutaciones en el gen AGL de pacientes colombianos, lo cual es importante para ofrecer un apropiado pronóstico, y asesoría genética al paciente y a su familia. Mención de responsabilidad : Carolina Mantilla, Mónica Toro, María Elsy Sepúlveda, Margarita Insuasty, Diana Di Filippo, Juan Álvaro López, Carolina Baquero, María Cristina Navas, Andrés Augusto Arias Referencia : Biomedica. 2018 May 1;38(0):30-42. DOI (Digital Object Identifier) : 10.7705/biomedica.v38i0.3454 PMID : 29809327 En línea : https://www.revistabiomedica.org/index.php/biomedica/article/view/3454 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_dis Reserva
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Título : mRNA quantification of NIPBL isoforms A and B in adult and fetal human tissues, and a potentially pathological variant affecting only isoform A in two patients with Cornelia de Lange syndrome Tipo de documento : documento electrónico Autores : Carolina Baquero Montoya, Fecha de publicación : 2017 Títulos uniformes : International Journal of Molecular Sciences Dimensiones : Idioma : Inglés (eng) Palabras clave : Cornelia de Lange syndrome NIPBL isoform A NIPBL isoform B NIPBL pathological variant adult tissues fetal tissues mRNA splicing variants Resumen : Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by craniofacial dysmorphia, growth retardation, limb malformations, and intellectual disability. Approximately 60% of patients with CdLS carry a recognizable pathological variant in the NIPBL gene, of which two isoforms, A and B, have been identified, and which only differ in the C-terminal segment. In this work, we describe the distribution pattern of the isoforms A and B mRNAs in tissues of adult and fetal origin, by qPCR (quantitative polymerase chain reaction). Our results show a higher gene expression of the isoform A, even though both seem to have the same tissue distribution. Interestingly, the expression in fetal tissues is higher than that of adults, especially in brain and skeletal muscle. Curiously, the study of fibroblasts of two siblings with a mild CdLS phenotype and a pathological variant specific of the isoform A of NIPBL (c.8387A > G; P.Tyr2796Cys), showed a similar reduction in both isoforms, and a normal sensitivity to DNA damage. Overall, these results suggest that the position of the pathological variant at the 3´ end of the NIPBL gene affecting only isoform A, is likely to be the cause of the atypical mild phenotype of the two brothers. Mención de responsabilidad : Beatriz Puisac, María-Esperanza Teresa-Rodrigo, María Hernández-Marcos, Carolina Baquero-Montoya, María-Concepción Gil-Rodríguez, Torkild Visnes, Christopher Bot, Paulino Gómez-Puertas, Frank J Kaiser, Feliciano J Ramos, Lena Ström, Juan Pié Referencia : Int J Mol Sci. 2017 Feb 23;18(3). pii: E481 DOI (Digital Object Identifier) : 10.3390/ijms18030481 PMID : 28241484 Derechos de uso : CC BY En línea : https://www.mdpi.com/1422-0067/18/3/481 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_dis mRNA quantification of NIPBL isoforms A and B in adult and fetal human tissues, and a potentially pathological variant affecting only isoform A in two patients with Cornelia de Lange syndrome [documento electrónico] / Carolina Baquero Montoya, . - 2017 . - ; PDF.
Obra : International Journal of Molecular Sciences
Idioma : Inglés (eng)
Palabras clave : Cornelia de Lange syndrome NIPBL isoform A NIPBL isoform B NIPBL pathological variant adult tissues fetal tissues mRNA splicing variants Resumen : Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by craniofacial dysmorphia, growth retardation, limb malformations, and intellectual disability. Approximately 60% of patients with CdLS carry a recognizable pathological variant in the NIPBL gene, of which two isoforms, A and B, have been identified, and which only differ in the C-terminal segment. In this work, we describe the distribution pattern of the isoforms A and B mRNAs in tissues of adult and fetal origin, by qPCR (quantitative polymerase chain reaction). Our results show a higher gene expression of the isoform A, even though both seem to have the same tissue distribution. Interestingly, the expression in fetal tissues is higher than that of adults, especially in brain and skeletal muscle. Curiously, the study of fibroblasts of two siblings with a mild CdLS phenotype and a pathological variant specific of the isoform A of NIPBL (c.8387A > G; P.Tyr2796Cys), showed a similar reduction in both isoforms, and a normal sensitivity to DNA damage. Overall, these results suggest that the position of the pathological variant at the 3´ end of the NIPBL gene affecting only isoform A, is likely to be the cause of the atypical mild phenotype of the two brothers. Mención de responsabilidad : Beatriz Puisac, María-Esperanza Teresa-Rodrigo, María Hernández-Marcos, Carolina Baquero-Montoya, María-Concepción Gil-Rodríguez, Torkild Visnes, Christopher Bot, Paulino Gómez-Puertas, Frank J Kaiser, Feliciano J Ramos, Lena Ström, Juan Pié Referencia : Int J Mol Sci. 2017 Feb 23;18(3). pii: E481 DOI (Digital Object Identifier) : 10.3390/ijms18030481 PMID : 28241484 Derechos de uso : CC BY En línea : https://www.mdpi.com/1422-0067/18/3/481 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_dis Reserva
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Título : Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes Tipo de documento : documento electrónico Autores : Carolina Baquero Montoya, Fecha de publicación : 2017 Títulos uniformes : Human Genetics Idioma : Inglés (eng) Palabras clave : Intellectual Disability Sister Chromatid Cohesion Cohesin Complex Missense Substitution Depressed Nasal Bridge Resumen : The coordinated tissue-specific regulation of gene expression is essential for the proper development of all organisms. Mutations in multiple transcriptional regulators cause a group of neurodevelopmental disorders termed "transcriptomopathies" that share core phenotypical features including growth retardation, developmental delay, intellectual disability and facial dysmorphism. Cornelia de Lange syndrome (CdLS) belongs to this class of disorders and is caused by mutations in different subunits or regulators of the cohesin complex. Herein, we report on the clinical and molecular characterization of seven patients with features overlapping with CdLS who were found to carry mutations in chromatin regulators previously associated to other neurodevelopmental disorders that are frequently considered in the differential diagnosis of CdLS. The identified mutations affect the methyltransferase-encoding genes KMT2A and SETD5 and different subunits of the SWI/SNF chromatin-remodeling complex. Complementary to this, a patient with Coffin-Siris syndrome was found to carry a missense substitution in NIPBL. Our findings indicate that mutations in a variety of chromatin-associated factors result in overlapping clinical phenotypes, underscoring the genetic heterogeneity that should be considered when assessing the clinical and molecular diagnosis of neurodevelopmental syndromes. It is clear that emerging molecular mechanisms of chromatin dysregulation are central to understanding the pathogenesis of these clinically overlapping genetic disorders. Mención de responsabilidad : Ilaria Parenti, María E Teresa-Rodrigo, Jelena Pozojevic, Sara Ruiz Gil, Ingrid Bader, Diana Braunholz, Nuria C Bramswig, Cristina Gervasini, Lidia Larizza, Lutz Pfeiffer, Ferda Ozkinay, Feliciano Ramos, Benedikt Reiz, Olaf Rittinger, Tim M Strom, Erwan Watrin, Kerstin Wendt, Dagmar Wieczorek, Bernd Wollnik, Carolina Baquero-Montoya, Juan Pié, Matthew A Deardorff, Gabriele Gillessen-Kaesbach, Frank J Kaiser Referencia : Hum Genet. 2017 Mar;136(3):307-320. DOI (Digital Object Identifier) : 10.1007/s00439-017-1758-y PMID : 28120103 En línea : https://link.springer.com/article/10.1007%2Fs00439-017-1758-y Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_dis Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes [documento electrónico] / Carolina Baquero Montoya, . - 2017.
Obra : Human Genetics
Idioma : Inglés (eng)
Palabras clave : Intellectual Disability Sister Chromatid Cohesion Cohesin Complex Missense Substitution Depressed Nasal Bridge Resumen : The coordinated tissue-specific regulation of gene expression is essential for the proper development of all organisms. Mutations in multiple transcriptional regulators cause a group of neurodevelopmental disorders termed "transcriptomopathies" that share core phenotypical features including growth retardation, developmental delay, intellectual disability and facial dysmorphism. Cornelia de Lange syndrome (CdLS) belongs to this class of disorders and is caused by mutations in different subunits or regulators of the cohesin complex. Herein, we report on the clinical and molecular characterization of seven patients with features overlapping with CdLS who were found to carry mutations in chromatin regulators previously associated to other neurodevelopmental disorders that are frequently considered in the differential diagnosis of CdLS. The identified mutations affect the methyltransferase-encoding genes KMT2A and SETD5 and different subunits of the SWI/SNF chromatin-remodeling complex. Complementary to this, a patient with Coffin-Siris syndrome was found to carry a missense substitution in NIPBL. Our findings indicate that mutations in a variety of chromatin-associated factors result in overlapping clinical phenotypes, underscoring the genetic heterogeneity that should be considered when assessing the clinical and molecular diagnosis of neurodevelopmental syndromes. It is clear that emerging molecular mechanisms of chromatin dysregulation are central to understanding the pathogenesis of these clinically overlapping genetic disorders. Mención de responsabilidad : Ilaria Parenti, María E Teresa-Rodrigo, Jelena Pozojevic, Sara Ruiz Gil, Ingrid Bader, Diana Braunholz, Nuria C Bramswig, Cristina Gervasini, Lidia Larizza, Lutz Pfeiffer, Ferda Ozkinay, Feliciano Ramos, Benedikt Reiz, Olaf Rittinger, Tim M Strom, Erwan Watrin, Kerstin Wendt, Dagmar Wieczorek, Bernd Wollnik, Carolina Baquero-Montoya, Juan Pié, Matthew A Deardorff, Gabriele Gillessen-Kaesbach, Frank J Kaiser Referencia : Hum Genet. 2017 Mar;136(3):307-320. DOI (Digital Object Identifier) : 10.1007/s00439-017-1758-y PMID : 28120103 En línea : https://link.springer.com/article/10.1007%2Fs00439-017-1758-y Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_dis Reserva
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