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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 / Carolina Baquero Montoya
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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_display&id=3419 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_display&id=3419 Reserva
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Código de barras Número de Ubicación Tipo de medio Ubicación Sección Estado DD000615 AC-2017-004 Archivo digital Producción Científica Artículos científicos Disponible Documentos electrónicos
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2017-004.pdfAdobe Acrobat PDFDe novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes / Carolina Baquero Montoya
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Título : De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes Tipo de documento : documento electrónico Autores : Carolina Baquero Montoya, Fecha de publicación : 2015 Títulos uniformes : Human Mutation Idioma : Inglés (eng) Palabras clave : Cornelia de Lange syndrome CdLS SMC3 cohesin complex CdLS-overlapping phenotypes CdLS- like Resumen : Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS‐like phenotypes. To date, only the clinical features from a single CdLS patient with SMC3 mutation has been published. Here, we report the efforts of an international research and clinical collaboration to provide clinical comparison of 16 patients with CdLS‐like features caused by mutations in SMC3. Modeling of the mutation effects on protein structure suggests a dominant‐negative effect on the multimeric cohesin complex. When compared with typical CdLS, many SMC3‐associated phenotypes are also characterized by postnatal microcephaly but with a less distinctive craniofacial appearance, a milder prenatal growth retardation that worsens in childhood, few congenital heart defects, and an absence of limb deficiencies. While most mutations are unique, two unrelated affected individuals shared the same mutation but presented with different phenotypes. This work confirms that de novo SMC3 mutations account for ∼1%–2% of CdLS‐like phenotypes. Mención de responsabilidad : María Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, Christopher A Tan, Ilaria Parenti, Carolina Baquero-Montoya, Lilian B Ousager, Beatriz Puisac, María Hernández-Marcos, María Esperanza Teresa-Rodrigo, Iñigo Marcos-Alcalde, Jan-Jaap Wesselink, Silvia Lusa-Bernal, Emilia K Bijlsma, Diana Braunholz, Inés Bueno-Martinez, Dinah Clark, Nicola S Cooper, Cynthia J Curry, Richard Fisher, Alan Fryer, Jaya Ganesh, Cristina Gervasini, Gabriele Gillessen-Kaesbach, Yiran Guo, Hakon Hakonarson, Robert J Hopkin, Maninder Kaur, Brendan J Keating, María Kibaek, Esther Kinning, Tjitske Kleefstra, Antonie D Kline, Ekaterina Kuchinskaya, Lidia Larizza, Yun R Li, Xuanzhu Liu, Milena Mariani, Jonathan D Picker, Ángeles Pié, Jelena Pozojevic, Ethel Queralt, Julie Richer, Elizabeth Roeder, Anubha Sinha, Richard H Scott, Joyce So, Katherine A Wusik, Louise Wilson, Jianguo Zhang, Paulino Gómez-Puertas, César H Casale, Lena Ström, Angelo Selicorni, Feliciano J Ramos, Laird G Jackson, Ian D Krantz Referencia : Hum Mutat. 2015 Apr;36(4):454-62. DOI (Digital Object Identifier) : 10.1002/humu.22761 PMID : 25655089 En línea : https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22761 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=3922 De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes [documento electrónico] / Carolina Baquero Montoya, . - 2015.
Obra : Human Mutation
Idioma : Inglés (eng)
Palabras clave : Cornelia de Lange syndrome CdLS SMC3 cohesin complex CdLS-overlapping phenotypes CdLS- like Resumen : Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS‐like phenotypes. To date, only the clinical features from a single CdLS patient with SMC3 mutation has been published. Here, we report the efforts of an international research and clinical collaboration to provide clinical comparison of 16 patients with CdLS‐like features caused by mutations in SMC3. Modeling of the mutation effects on protein structure suggests a dominant‐negative effect on the multimeric cohesin complex. When compared with typical CdLS, many SMC3‐associated phenotypes are also characterized by postnatal microcephaly but with a less distinctive craniofacial appearance, a milder prenatal growth retardation that worsens in childhood, few congenital heart defects, and an absence of limb deficiencies. While most mutations are unique, two unrelated affected individuals shared the same mutation but presented with different phenotypes. This work confirms that de novo SMC3 mutations account for ∼1%–2% of CdLS‐like phenotypes. Mención de responsabilidad : María Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, Christopher A Tan, Ilaria Parenti, Carolina Baquero-Montoya, Lilian B Ousager, Beatriz Puisac, María Hernández-Marcos, María Esperanza Teresa-Rodrigo, Iñigo Marcos-Alcalde, Jan-Jaap Wesselink, Silvia Lusa-Bernal, Emilia K Bijlsma, Diana Braunholz, Inés Bueno-Martinez, Dinah Clark, Nicola S Cooper, Cynthia J Curry, Richard Fisher, Alan Fryer, Jaya Ganesh, Cristina Gervasini, Gabriele Gillessen-Kaesbach, Yiran Guo, Hakon Hakonarson, Robert J Hopkin, Maninder Kaur, Brendan J Keating, María Kibaek, Esther Kinning, Tjitske Kleefstra, Antonie D Kline, Ekaterina Kuchinskaya, Lidia Larizza, Yun R Li, Xuanzhu Liu, Milena Mariani, Jonathan D Picker, Ángeles Pié, Jelena Pozojevic, Ethel Queralt, Julie Richer, Elizabeth Roeder, Anubha Sinha, Richard H Scott, Joyce So, Katherine A Wusik, Louise Wilson, Jianguo Zhang, Paulino Gómez-Puertas, César H Casale, Lena Ström, Angelo Selicorni, Feliciano J Ramos, Laird G Jackson, Ian D Krantz Referencia : Hum Mutat. 2015 Apr;36(4):454-62. DOI (Digital Object Identifier) : 10.1002/humu.22761 PMID : 25655089 En línea : https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22761 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=3922 Reserva
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Código de barras Número de Ubicación Tipo de medio Ubicación Sección Estado DD000506 AC-2015-059 Archivo digital Producción Científica Artículos científicos Disponible Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation / Carolina Baquero Montoya
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Título : Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation Tipo de documento : documento electrónico Autores : Carolina Baquero Montoya, Fecha de publicación : 2014 Títulos uniformes : European Journal of Medical Genetics Idioma : Inglés (eng) Palabras clave : Cornelia de Lange syndrome CdLS HEAT repeat ipsilateral musculoskeletal involvement NIPBL mutation BHLHA9 duplication exome sequencing Resumen : Cornelia de Lange Syndrome (CdLS) is a congenital autosomal dominant ( NIPBL , SMC3 and RAD21 ) or X-linked ( SMC1A and HDAC8 ) disorder characterized by facial dysmorphism, pre and postnatal growth retardation, developmental delay and/or intellectual disability, and multiorgan involvement. Musculoskeletal malformations are usually bilateral and affect mainly the upper limbs; the range goes from brachyclinodactyly to severe reduction defects. Instead lower extremities are usually less and mildly involved. Here, we report on a 3-year-old Senegalese boy with typical craniofacial CdLS features, pre and postnatal growth retardation, atrial septal defect, developmental delay and right ipsilateral limb malformations, consistent with oligodactyly of the 3rd and 4th fingers, tibial agenesis and fibula hypoplasia. Exome sequencing and Sanger sequencing showed a novel missense mutation in NIPBL gene (c.6647A>G; p.(Tyr2216Cys)), which affects a conserved residue located within NIPBL HEAT repeat elements. Pyrosequencing analysis of NIPBL gene, disclosed similar levels of wild-type and mutated alleles in DNA and RNA samples from all tissues analyzed (oral mucosa epithelial cells, peripheral blood leukocytes and fibroblasts). These findings indicated the absence of somatic mosaicism, despite of the segmental asymmetry of the limbs, and confirmed biallelic expression for NIPBL transcripts, respectively. Additionally, conditions like Split-hand/foot malformation with long-bone deficiency secondary to duplication of BHLHA9 gene have been ruled out by the array-CGH and MLPA analysis. To our knowledge, this is the first CdLS patient described with major ipsilateral malformations of both the upper and lower extremities, that even though this finding could be due to a random event, expands the spectrum of limb reduction defects in CdLS. Mención de responsabilidad : Carolina Baquero-Montoya, María-Concepción Gil-Rodríguez, María Hernández-Marcos, María-Esperanza Teresa-Rodrigo, Alicia Vicente-Gabas, María-Luisa Bernal, Cesar-Horacio Casale, Gloria Bueno-Lozano, Inés Bueno-Martínez, Ethel Queralt, Olaya Villa, Cristina Hernando-Davalillo, Lluís Armengol, Paulino Gómez-Puertas, Beatriz Puisac, Angelo Selicorni, Feliciano J Ramos, Juan Pié Referencia : Eur J Med Genet. 2014 Sep;57(9):503-9. DOI (Digital Object Identifier) : 10.1016/j.ejmg.2014.05.006 PMID : 24874887 En línea : https://linkinghub.elsevier.com/retrieve/pii/S0041-1345(12)01403-0 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=3795 Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation [documento electrónico] / Carolina Baquero Montoya, . - 2014.
Obra : European Journal of Medical Genetics
Idioma : Inglés (eng)
Palabras clave : Cornelia de Lange syndrome CdLS HEAT repeat ipsilateral musculoskeletal involvement NIPBL mutation BHLHA9 duplication exome sequencing Resumen : Cornelia de Lange Syndrome (CdLS) is a congenital autosomal dominant ( NIPBL , SMC3 and RAD21 ) or X-linked ( SMC1A and HDAC8 ) disorder characterized by facial dysmorphism, pre and postnatal growth retardation, developmental delay and/or intellectual disability, and multiorgan involvement. Musculoskeletal malformations are usually bilateral and affect mainly the upper limbs; the range goes from brachyclinodactyly to severe reduction defects. Instead lower extremities are usually less and mildly involved. Here, we report on a 3-year-old Senegalese boy with typical craniofacial CdLS features, pre and postnatal growth retardation, atrial septal defect, developmental delay and right ipsilateral limb malformations, consistent with oligodactyly of the 3rd and 4th fingers, tibial agenesis and fibula hypoplasia. Exome sequencing and Sanger sequencing showed a novel missense mutation in NIPBL gene (c.6647A>G; p.(Tyr2216Cys)), which affects a conserved residue located within NIPBL HEAT repeat elements. Pyrosequencing analysis of NIPBL gene, disclosed similar levels of wild-type and mutated alleles in DNA and RNA samples from all tissues analyzed (oral mucosa epithelial cells, peripheral blood leukocytes and fibroblasts). These findings indicated the absence of somatic mosaicism, despite of the segmental asymmetry of the limbs, and confirmed biallelic expression for NIPBL transcripts, respectively. Additionally, conditions like Split-hand/foot malformation with long-bone deficiency secondary to duplication of BHLHA9 gene have been ruled out by the array-CGH and MLPA analysis. To our knowledge, this is the first CdLS patient described with major ipsilateral malformations of both the upper and lower extremities, that even though this finding could be due to a random event, expands the spectrum of limb reduction defects in CdLS. Mención de responsabilidad : Carolina Baquero-Montoya, María-Concepción Gil-Rodríguez, María Hernández-Marcos, María-Esperanza Teresa-Rodrigo, Alicia Vicente-Gabas, María-Luisa Bernal, Cesar-Horacio Casale, Gloria Bueno-Lozano, Inés Bueno-Martínez, Ethel Queralt, Olaya Villa, Cristina Hernando-Davalillo, Lluís Armengol, Paulino Gómez-Puertas, Beatriz Puisac, Angelo Selicorni, Feliciano J Ramos, Juan Pié Referencia : Eur J Med Genet. 2014 Sep;57(9):503-9. DOI (Digital Object Identifier) : 10.1016/j.ejmg.2014.05.006 PMID : 24874887 En línea : https://linkinghub.elsevier.com/retrieve/pii/S0041-1345(12)01403-0 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=3795 Reserva
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Código de barras Número de Ubicación Tipo de medio Ubicación Sección Estado DD000370 AC-2014-036 Archivo digital Producción Científica Artículos científicos Disponible