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Hum Genet. 2016 May;135(5):469-475. doi: 10.1007/s00439-016-1646-x. Epub 2016 Mar 11.

No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.

Author information

1
Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany.
2
Division of Molecular Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
3
German Cancer Consortium (DKTK) Core Center Heidelberg, Heidelberg, Germany.
4
Institute of Computer Science, Freie Universität Berlin, Berlin, Germany.
5
Institute of Medical Genetics and Human Genetics, Charité University Hospital, Berlin, Germany.
6
European Molecular Biology Laboratory (EMBL), Genome Biology Research Unit, Heidelberg, Germany.
7
Institute of Human Genetics, University of Ulm, Ulm, Germany.
8
Department of Oral and Cranio-Maxillofacial Surgery, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
9
Division of Hematology/Oncology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
10
Clinical Cooperation Unit Pediatric Oncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
11
Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany.
12
National Center for Tumor Diseases (NCT), Heidelberg, Germany.
13
Department of Neurosurgery, University Hospital Tübingen, Tübingen, Germany.
14
Centre for Neurofibromatosis, Centre for Rare Diseases Tübingen, Tübingen, Germany.
15
German Cancer Consortium (DKTK) Partner Site Tübingen, Tübingen, Germany.
16
Department of Neurology, University Hospital Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany. v.mautner@uke.de.
17
Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany. davidjones@cantab.net.
18
German Cancer Consortium (DKTK) Core Center Heidelberg, Heidelberg, Germany. davidjones@cantab.net.

Abstract

Neurofibromatosis type 1 (NF1) is a common monogenic disorder whereby affected individuals are predisposed to developing CNS tumors, including optic pathway gliomas (OPGs, occurring in ~15 to 20 % of cases). So far, no definite genotype-phenotype correlation determining NF1 patients at risk for tumor formation has been described, although enrichment for mutations in the 5' region of the NF1 gene in OPG patients has been suggested. We used whole exome sequencing, targeted sequencing, and copy number analysis to screen 77 unrelated NF1 patients with (n = 41) or without (n = 36; age ≥10 years) optic pathway glioma for germline NF1 alterations. We identified germline NF1 mutations in 69 of 77 patients (90 %), but no genotype-phenotype correlation was observed. Our data using a larger patient cohort did not confirm the previously reported clustering of mutations in the 5' region of the NF1 gene in patients with OPG. Thus, NF1 mutation location should not currently be used as a clinical criterion to assess the risk of developing OPGs.

PMID:
26969325
DOI:
10.1007/s00439-016-1646-x
[Indexed for MEDLINE]

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