Por favor, use este identificador para citar o enlazar a este item:
http://hdl.handle.net/10261/33590
COMPARTIR / EXPORTAR:
SHARE CORE BASE | |
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE | |
Título: | Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region |
Autor: | Fernández, Raquel M. CSIC ORCID; Núñez-Torres, Rocío; González-Meneses, Antonio; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | Fecha de publicación: | 22-sep-2010 | Editor: | BioMed Central | Citación: | BMC Medical Genetics 11: 137 (2010) | Resumen: | [Background]: Hirschsprung disease (HSCR) is a neurocristopathy characterized by the absence of parasympathetic intrinsic ganglion cells in the submucosal and myenteric plexuses along a variable portion of the intestinal tract. In approximately 18% of the cases HSCR also presents with multiple congenital anomalies including recognized syndromes. [Methods]: A combination of MLPA and microarray data analysis have been undertaken to refine a duplication at the Xq28 region. [Results]: In this study we present a new clinical association of severe neonatal encephalopathy (Lubs syndrome) and HSCR, in a male patient carrying a duplication at the Xq28 region which encompasses the MECP2 and L1CAM genes. [Conclusions]: While the encephalopathy has been traditionally attributed to the MECP2 gene duplication in patients with Lubs syndrome, here we propose that the enteric phenotype in our patient might be due to the dosage variation of the L1CAM protein, together with additional molecular events not identified yet. This would be in agreement with the hypothesis previously forwarded that mutations in L1CAM may be involved in HSCR development in association with a predisposing genetic background. | Descripción: | 7 páginas, 3 figuras. | Versión del editor: | http://dx.doi.org/10.1186/1471-2350-11-137 | URI: | http://hdl.handle.net/10261/33590 | DOI: | 10.1186/1471-2350-11-137 | ISSN: | 1471-2350 |
Aparece en las colecciones: | (IBIS) Artículos |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
---|---|---|---|---|
1471-2350-11-137.pdf | 398,45 kB | Adobe PDF | Visualizar/Abrir |
CORE Recommender
PubMed Central
Citations
10
checked on 20-mar-2024
SCOPUSTM
Citations
19
checked on 23-mar-2024
WEB OF SCIENCETM
Citations
16
checked on 27-feb-2024
Page view(s)
374
checked on 28-mar-2024
Download(s)
224
checked on 28-mar-2024
Google ScholarTM
Check
Altmetric
Altmetric
Artículos relacionados:
NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.