Journal Article

DKFZ-2017-01927

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.

Farschtschi, S. ; Mautner, V.-F. ; Pham, M. ; Nguyen, R. ; Kehrer-Sawatzki, H. ; Hutter, S.DKFZ* ; Friedrich, R. E. ; Schulz, A. ; Morrison, H. ; Jones, D.DKFZ* ; Bendszus, M. ; Bäumer, P. (Last author)DKFZ*

2016
Wiley-Blackwell Hoboken, NJ

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Please use a persistent id in citations: doi:10.1002/ana.24753

Abstract: Schwannomatosis is a genetic disorder characterized by the occurrence of multiple peripheral schwannomas. Segmental schwannomatosis is diagnosed when schwannomas are restricted to 1 extremity and is thought to be caused by genetic mosaicism. We studied 5 patients with segmental schwannomatosis through microstructural magnetic resonance neurography and mutation analysis of NF2, SMARCB1, and LZTR1. In 4 of 5 patients, subtle fascicular nerve lesions were detected in clinically unaffected extremities. Two patients exhibited LZTR1 germline mutations. This appears contrary to a simple concept of genetic mosaicism and suggests more complex and heterogeneous mechanisms underlying the phenotype of segmental schwannomatosis than previously thought. Ann Neurol 2016;80:625-628.

Keyword(s): LZTR1 protein, human ; Transcription Factors

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Contributing Institute(s):

1. Pädiatrische Neuroonkologie (B062)
2. Radiologie (E010)

Research Program(s):

1. 315 - Imaging and radiooncology (POF3-315) (POF3-315)

Appears in the scientific report 2016

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Database coverage:
; BIOSIS Previews ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; IF >= 5 ; JCR ; NCBI Molecular Biology Database ; Nationallizenz ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Thomson Reuters Master Journal List ; Web of Science Core Collection

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