140749 20250415113105.0 10.1007/s10689-019-00121-z doi pmid:30680470 pmid 1389-9600 ISSN 1573-7292 ISSN altmetric:54568837 altmetric DZNE-2020-07071 English 610 Chiu, Celine 0 Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots. Dordrecht [u.a.] 2019 Springer Science + Business Media B.V online Crossref Springer Science and Business Media LLC 2019-01-24 print Crossref Springer Science and Business Media LLC 2019-07-01 article DRIVER Output Types/Journal article DataCite Journal Article journal journal PUB:(DE-HGF)16 1744709424_5562 PUB:(DE-HGF) ARTICLE BibTeX JOURNAL_ARTICLE ORCID Journal Article 0 EndNote Medulloblastoma is the most frequent malignant brain tumor in childhood. This highly malignant neoplasm occurs usually before 10 years of age and more frequently in boys. The 5-year event-free survival rate for high-risk medulloblastoma is low at 62% despite a multimodal therapy including surgical resection, radiation therapy and chemotherapy. We report the case of a boy, who was born to consanguineous parents. Prominently, he had multiple café-au-lait spots. At the age of 3 years he was diagnosed with a high-risk metastatic medulloblastoma. The patient died only 11 months after diagnosis of a fulminant relapse presenting as meningeal and spinal dissemination. Whole-exome sequencing of germline DNA was employed to detect the underlying mutation for this putative cancer syndrome presenting with the combination of medulloblastoma and skin alterations. After screening all possible homozygous gene SNVs, we identified a mutation of SON, an essential protein in cell cycle regulation and cell proliferation, as the most likely genetic cause. 345 - Population Studies and Genetics (POF3-345) G:(DE-HGF)POF3-345 POF3-345 POF III 0 2019-01-24 Crossref http://www.springer.com/tdm Dataset connected to CrossRef, PubMed, DNA-Binding Proteins NLM Chemicals Minor Histocompatibility Antigens NLM Chemicals SON protein, human NLM Chemicals Cafe-au-Lait Spots: genetics MeSH Cerebellar Neoplasms: genetics MeSH Child, Preschool MeSH Consanguinity MeSH DNA-Binding Proteins: genetics MeSH Fatal Outcome MeSH Humans MeSH Male MeSH Medulloblastoma: genetics MeSH Minor Histocompatibility Antigens: genetics MeSH Pedigree MeSH Point Mutation MeSH Syndrome MeSH Loth, Stefanie 1 Kuhlen, Michaela 2 Ginzel, Sebastian 3 Schaper, Jörg 4 Rosenbaum, Thorsten 5 Pietsch, Torsten P:(DE-2719)2812617 6 dzne Borkhardt, Arndt 7 Hoell, Jessica I P:(DE-HGF)0 8 Corresponding author 10.1007/s10689-019-00121-z : Springer Science and Business Media LLC, 2019-01-24 3 353-358 journal-article Crossref Familial Cancer 18 2019 1389-9600 10.1007/s10689-019-00121-z Vol. 18, no. 3, p. 353 - 358 PERI:(DE-600)2015448-3 3 18:3<353 - 358 353-358 Familial cancer 18 2019 1389-9600 http://pub.dzne.de/record/140749/files/DZNE-2020-07071_Restricted.pdf http://pub.dzne.de/record/140749/files/DZNE-2020-07071_Restricted.pdf?subformat=pdfa pdfa VDB oai:pub.dzne.de:140749 Deutsches Zentrum für Neurodegenerative Erkrankungen I:(DE-588)1065079516 DZNE 6 P:(DE-2719)2812617 DE-HGF Gesundheit Erkrankungen des Nervensystems G:(DE-HGF)POF3-340 G:(DE-HGF)POF3-345 G:(DE-HGF)POF3 G:(DE-HGF)POF3-300 G:(DE-HGF)POF Population Studies and Genetics 0 2019 Nationallizenz StatID:(DE-HGF)0420 StatID 2022-11-17 ger JCR StatID:(DE-HGF)0100 StatID FAM CANCER : 2021 2022-11-17 DBCoverage StatID:(DE-HGF)0200 StatID SCOPUS 2022-11-17 DBCoverage StatID:(DE-HGF)0300 StatID Medline 2022-11-17 DBCoverage StatID:(DE-HGF)0199 StatID Clarivate Analytics Master Journal List 2022-11-17 DBCoverage StatID:(DE-HGF)0150 StatID Web of Science Core Collection 2022-11-17 DBCoverage StatID:(DE-HGF)1110 StatID Current Contents - Clinical Medicine 2022-11-17 IF < 5 StatID:(DE-HGF)9900 StatID 2022-11-17 I:(DE-2719)1011009 Brainbank (Bonn) Brainbank Unit Bonn 0 journal VDB I:(DE-2719)1011009 UNRESTRICTED -- missing cx lookup -- 10.1200/JCO.2016.67.2428 Crossref 10.1200/JCO.2016.67.2428 -- missing cx lookup -- 10.1002/ajmg.a.38142 Crossref 10.1002/ajmg.a.38142 -- missing cx lookup -- 10.1056/NEJMoa1306555 Crossref 10.1056/NEJMoa1306555 -- missing cx lookup -- 10.1055/s-0034-1389905 Crossref 10.1055/s-0034-1389905 -- missing cx lookup -- 10.1093/bioinformatics/btp352 Crossref 10.1093/bioinformatics/btp352 -- missing cx lookup -- 10.1016/j.expneurol.2012.11.029 Crossref 10.1016/j.expneurol.2012.11.029 -- missing cx lookup -- 10.1038/ng.806 Crossref 10.1038/ng.806 -- missing cx lookup -- 10.1093/bioinformatics/btq330 Crossref 10.1093/bioinformatics/btq330 -- missing cx lookup -- 10.1038/nmeth0410-248 Crossref 10.1038/nmeth0410-248 -- missing cx lookup -- 10.1038/nprot.2009.86 Crossref 10.1038/nprot.2009.86 -- missing cx lookup -- 10.1002/humu.22511 Crossref 10.1002/humu.22511 -- missing cx lookup -- 10.1016/j.devcel.2010.06.005 Crossref 10.1016/j.devcel.2010.06.005 -- missing cx lookup -- 10.1016/j.tibtech.2013.03.005 Crossref 10.1016/j.tibtech.2013.03.005 -- missing cx lookup -- 10.1038/onc.2017.208 Crossref 10.1038/onc.2017.208 -- missing cx lookup -- 10.1002/jcb.24672 Crossref 10.1002/jcb.24672 -- missing cx lookup -- 10.1091/mbc.e09-02-0126 Crossref 10.1091/mbc.e09-02-0126 -- missing cx lookup -- 10.1186/1476-4598-11-88 Crossref 10.1186/1476-4598-11-88 -- missing cx lookup -- 10.1016/j.molcel.2016.02.024 Crossref 10.1016/j.molcel.2016.02.024