| Título : |
Special Cases in Cornelia de Lange Syndrome: The Spanish Experience |
| Tipo de documento : |
documento electrónico |
| Autores : |
Carolina Baquero Montoya, |
| Fecha de publicación : |
2016 |
| Títulos uniformes : |
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
| Idioma : |
Inglés (eng) |
| Palabras clave : |
Cornelia de Lange syndrome; NIPBL; somatic mosaicism; splicing variants |
| Resumen : |
Cornelia de Lange Syndrome (CdLS) is an autosomal dominant (NIPBL, SMC3, and RAD21) or X-linked (SMC1A and HDAC8) disorder, characterized by distinctive craniofacial appearance, growth retardation, intellectual disability, and limb anomalies. In 2005, the Spanish CdLS Reference Center was started and now we have more than 270 cases in our database. In this special issue, we describe some of the unique or atypical patients studied by our group, whose clinical features have contributed to the expansion of the CdLS classical phenotype, helping clinicians to diagnose it. We include the case of a male with unilateral tibial hypoplasia and peroneal agenesis who had a mutation in NIPBL; we also describe one patient with a mutation in NIPBL and somatic mosaicism identified by new generation sequencing techniques; we also include one patient with CdLS and Turner syndrome; and last, an interesting patient with a duplication of the SMC1A gene. Finally, we make a short review of the splicing mutations we have found in NIPBL regarding the new knowledge on the physiological variants of the gene. |
| Mención de responsabilidad : |
Juan Pié, Beatriz Puisac, Maria Hernández-Marcos, Maria Esperanza Teresa-Rodrigo, Maria Gil-Rodríguez, Carolina Baquero-Montoya, Maria Ramos-Cáceres, Maria Bernal, Ariadna Ayerza-Casas, Inés Bueno, Paulino Gómez-Puertas, Feliciano J Ramos |
| Referencia : |
Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):198-205. |
| DOI (Digital Object Identifier) : |
10.1002/ajmg.c.31501 |
| PMID : |
27164022 |
| En línea : |
https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.31501 |
| Enlace permanente : |
https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=4653 |
Special Cases in Cornelia de Lange Syndrome: The Spanish Experience [documento electrónico] / Carolina Baquero Montoya, . - 2016. Obra : American Journal of Medical Genetics. Part C, Seminars in Medical GeneticsIdioma : Inglés ( eng) | Palabras clave : |
Cornelia de Lange syndrome; NIPBL; somatic mosaicism; splicing variants |
| Resumen : |
Cornelia de Lange Syndrome (CdLS) is an autosomal dominant (NIPBL, SMC3, and RAD21) or X-linked (SMC1A and HDAC8) disorder, characterized by distinctive craniofacial appearance, growth retardation, intellectual disability, and limb anomalies. In 2005, the Spanish CdLS Reference Center was started and now we have more than 270 cases in our database. In this special issue, we describe some of the unique or atypical patients studied by our group, whose clinical features have contributed to the expansion of the CdLS classical phenotype, helping clinicians to diagnose it. We include the case of a male with unilateral tibial hypoplasia and peroneal agenesis who had a mutation in NIPBL; we also describe one patient with a mutation in NIPBL and somatic mosaicism identified by new generation sequencing techniques; we also include one patient with CdLS and Turner syndrome; and last, an interesting patient with a duplication of the SMC1A gene. Finally, we make a short review of the splicing mutations we have found in NIPBL regarding the new knowledge on the physiological variants of the gene. |
| Mención de responsabilidad : |
Juan Pié, Beatriz Puisac, Maria Hernández-Marcos, Maria Esperanza Teresa-Rodrigo, Maria Gil-Rodríguez, Carolina Baquero-Montoya, Maria Ramos-Cáceres, Maria Bernal, Ariadna Ayerza-Casas, Inés Bueno, Paulino Gómez-Puertas, Feliciano J Ramos |
| Referencia : |
Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):198-205. |
| DOI (Digital Object Identifier) : |
10.1002/ajmg.c.31501 |
| PMID : |
27164022 |
| En línea : |
https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.31501 |
| Enlace permanente : |
https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=4653 |
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