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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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© 2013 Bainbridge et al.; licensee BioMed Central Ltd
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Bainbridge, M. N., Autor
Hu, H.1, Autor           
Muzny, D. M., Autor
Musante, L.2, Autor           
Lupski, J. R., Autor
Graham, B. H., Autor
Chen, W.1, Autor           
Gripp, K. W., Autor
Jenny, K., Autor
Wienker, T. F.3, Autor           
Yang, Y., Autor
Sutton, V. R., Autor
Gibbs, R. A., Autor
Ropers, H. H.1, Autor           
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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 Zusammenfassung: 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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Sprache(n): eng - English
 Datum: 2013-02-05
 Publikationsstatus: Online veröffentlicht
 Seiten: -
 Ort, Verlag, Ausgabe: -
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 Art der Begutachtung: Expertenbegutachtung
 Identifikatoren: DOI: 10.1186/gm415
ISSN: 1756-994X (Electronic)
URI: http://www.ncbi.nlm.nih.gov/pubmed/23383720
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Titel: Genome Medicine
  Kurztitel : Genome Med
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: BioMed Central Ltd. Part of Springer Science+Business Media
Seiten: - Band / Heft: 5 (2) Artikelnummer: - Start- / Endseite: 5:11 - 5:11 Identifikator: -