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  Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

Emmerich, D., Zemojtel, T., Hecht, J., Krawitz, P., Spielmann, M., Kühnisch, J., et al. (2015). Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. European journal of human genetics, 23(6), 1870-1873. doi:10.1038/ejhg.2014.210.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0025-0BEA-4 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-002A-3ACE-F
Genre: Journal Article

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© 2014 Macmillan Publishers Limited
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 Creators:
Emmerich, Denise, Author
Zemojtel, Tomasz1, Author              
Hecht, Jochen2, Author              
Krawitz, Peter, Author
Spielmann, Malte2, Author              
Kühnisch, Jirko, Author
Kobus, Karolina, Author
Oßwald, Monika2, Author              
Heinrich, Verena, Author
Berlien, Peter, Author
Müller, Ute, Author
Mautner, Victor-F., Author
Wimmer, Katharina, Author
Robinson, Peter N.2, Author              
Vingron, Martin3, Author              
Tinschert, Sigrid2, Author              
Mundlos, Stefan2, Author              
Kolanczyk, Mateusz2, Author              
Affiliations:
1Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433547              
2Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
3Gene regulation (Martin Vingron), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479639              

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 Abstract: Neurofibromatosis type 1 (NF1) (MIM#162200) is a relatively frequent genetic condition that predisposes to tumor formation. The main types of tumors occurring in NF1 patients are cutaneous and subcutaneous neurofibromas, plexiform neurofibromas, optic pathway gliomas, and malignant peripheral nerve sheath tumors. To search for somatic mutations in cutaneous (dermal) neurofibromas, whole-exome sequencing (WES) was performed on seven spatially separated tumors and two reference tissues (blood and unaffected skin) from a single NF1 patient. Validation of WES findings was done using routine Sanger sequencing or Sequenom IPlex SNP genotyping. Exome sequencing confirmed the existence of a known familial splice-site mutation NM_000267.3:c.3113+1G>A in exon 23 of NF1 gene (HGMD ID CS951480) in blood, unaffected skin, and all tumor samples. In five out of seven analyzed tumors, we additionally detected second-hit mutations in the NF1 gene. Four of them were novel and one was previously observed. Each mutation was distinct, demonstrating the independent origin of each tumor. Only in two of seven tumors we detected an additional somatic mutation that was not associated with NF1. Our study demonstrated that somatic mutations of NF1 are likely the main drivers of cutaneous tumor formation. The study provides evidence for the rareness of single base pair level alterations in the exomes of benign NF1 cutaneous tumors.European Journal of Human Genetics advance online publication, 8 October 2014; doi:10.1038/ejhg.2014.210.

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Language(s): eng - English
 Dates: 2014-10-082015-06
 Publication Status: Published in print
 Pages: 4
 Publishing info: -
 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1038/ejhg.2014.210
ISSN: 1476-5438 (Electronic)1018-4813 (Print)
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Title: European journal of human genetics
  Other : Eur. J. Hum. Genet.
Source Genre: Journal
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Publ. Info: Nature Publishing Group
Pages: - Volume / Issue: 23 (6) Sequence Number: - Start / End Page: 1870 - 1873 Identifier: ISSN: 1018-4813
CoNE: /journals/resource/954925585277_1