Cargando…
Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region
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 congeni...
Autores principales: | , , , , |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2010
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2955569/ https://www.ncbi.nlm.nih.gov/pubmed/20860806 http://dx.doi.org/10.1186/1471-2350-11-137 |
_version_ | 1782188041065988096 |
---|---|
author | Fernández, Raquel M Núñez-Torres, Rocío González-Meneses, Antonio Antiñolo, Guillermo Borrego, Salud |
author_facet | Fernández, Raquel M Núñez-Torres, Rocío González-Meneses, Antonio Antiñolo, Guillermo Borrego, Salud |
author_sort | Fernández, Raquel M |
collection | PubMed |
description | 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. |
format | Text |
id | pubmed-2955569 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-29555692010-10-16 Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region Fernández, Raquel M Núñez-Torres, Rocío González-Meneses, Antonio Antiñolo, Guillermo Borrego, Salud BMC Med Genet Research Article 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. BioMed Central 2010-09-22 /pmc/articles/PMC2955569/ /pubmed/20860806 http://dx.doi.org/10.1186/1471-2350-11-137 Text en Copyright ©2010 Fernández et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Fernández, Raquel M Núñez-Torres, Rocío González-Meneses, Antonio Antiñolo, Guillermo Borrego, Salud Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region |
title | Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region |
title_full | Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region |
title_fullStr | Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region |
title_full_unstemmed | Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region |
title_short | Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region |
title_sort | novel association of severe neonatal encephalopathy and hirschsprung disease in a male with a duplication at the xq28 region |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2955569/ https://www.ncbi.nlm.nih.gov/pubmed/20860806 http://dx.doi.org/10.1186/1471-2350-11-137 |
work_keys_str_mv | AT fernandezraquelm novelassociationofsevereneonatalencephalopathyandhirschsprungdiseaseinamalewithaduplicationatthexq28region AT nuneztorresrocio novelassociationofsevereneonatalencephalopathyandhirschsprungdiseaseinamalewithaduplicationatthexq28region AT gonzalezmenesesantonio novelassociationofsevereneonatalencephalopathyandhirschsprungdiseaseinamalewithaduplicationatthexq28region AT antinologuillermo novelassociationofsevereneonatalencephalopathyandhirschsprungdiseaseinamalewithaduplicationatthexq28region AT borregosalud novelassociationofsevereneonatalencephalopathyandhirschsprungdiseaseinamalewithaduplicationatthexq28region |