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  De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Bainbridge, M. N., Hu, H., Muzny, D. M., Musante, L., Lupski, J. R., Graham, B. H., et al. (2013). De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Medicine, 5(2), 5:11-5:11. doi:10.1186/gm415.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0018-E90C-8 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0018-E90E-4
Genre: Journal Article

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© 2013 Bainbridge et al.; licensee BioMed Central Ltd
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 Creators:
Bainbridge, M. N., Author
Hu, H.1, Author              
Muzny, D. M., Author
Musante, L.2, Author              
Lupski, J. R., Author
Graham, B. H., Author
Chen, W.1, Author              
Gripp, K. W., Author
Jenny, K., Author
Wienker, T. F.3, Author              
Yang, Y., Author
Sutton, V. R., Author
Gibbs, R. A., Author
Ropers, H. H.1, Author              
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, Ihnestr. 73, 14195 Berlin, Germany, ou_1433549              
2Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, Ihnestr, 73, 14195 Berlin, Germany, ou_1479644              
3Clinical Genetics (Thomas F. Wienker), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, Ihnestr, 73, 14195 Berlin, Germany, 1479643              

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 Abstract: BACKGROUND: Molecular diagnostics can resolve locus heterogeneity underlying clinical phenotypes that may otherwise be co-assigned as a specific syndrome based on shared clinical features, and can associate phenotypically diverse diseases to a single locus through allelic affinity. Here we describe an apparently novel syndrome, likely caused by de novo truncating mutations in ASXL3, which shares characteristics with Bohring-Opitz syndrome, a disease associated with de novo truncating mutations in ASXL1. METHODS: We used whole-genome and whole-exome sequencing to interrogate the genomes of four subjects with an undiagnosed syndrome. RESULTS: Using genome-wide sequencing, we identified heterozygous, de novo truncating mutations in ASXL3, a transcriptional repressor related to ASXL1, in four unrelated probands. We found that these probands shared similar phenotypes, including severe feeding difficulties, failure to thrive, and neurologic abnormalities with significant developmental delay. Further, they showed less phenotypic overlap with patients who had de novo truncating mutations in ASXL1. CONCLUSION: We have identified truncating mutations in ASXL3 as the likely cause of a novel syndrome with phenotypic overlap with Bohring-Opitz syndrome.

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Language(s): eng - English
 Dates: 2013-02-05
 Publication Status: Published online
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 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1186/gm415
ISSN: 1756-994X (Electronic)
URI: http://www.ncbi.nlm.nih.gov/pubmed/23383720
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Title: Genome Medicine
  Abbreviation : Genome Med
Source Genre: Journal
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Publ. Info: BioMed Central Ltd. Part of Springer Science+Business Media
Pages: - Volume / Issue: 5 (2) Sequence Number: - Start / End Page: 5:11 - 5:11 Identifier: -