ArticleBMC medical genetics2010
Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.
Article in BMC medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 23 citations in OpenAlex.
- The X-factor in ART: does the use of assisted reproductive technologies influence DNA methylation on the X chromosome?Human genomics · 2023Article
- A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.Orphanet journal of rare diseases · 2022Review
- Review
- Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novelClinical case reports · 2021Article
- Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.BMC medical genetics · 2017Article
- Infectious and immunologic phenotype of MECP2 duplication syndrome.Journal of clinical immunology · 2015Article
- MECP2 duplication phenotype in symptomatic females: report of three further cases.Molecular cytogenetics · 2014Article
- Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.European journal of medical genetics · 2012Article
- MECP2 Duplication Syndrome.Molecular syndromology · 2012Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHirschsprung 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.
methodsA combination of MLPA and microarray data analysis have been undertaken to refine a duplication at the Xq28 region.
resultsIn 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.
conclusionsWhile 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.
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