Journal of Neuro-Oncology

, Volume 125, Issue 2, pp 439–441 | Cite as

Identification of a novel germline SMARCB1 nonsense mutation in a family manifesting both schwannomatosis and unilateral vestibular schwannoma

Letter to the Editor


Nonsense Mutation Vestibular Schwannoma Probability Score Vestibular Schwannomas Affect Protein Function 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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    Plotkin SR, Blakeley JO, Evans DG et al (2013) Update from the 2011 international schwannomatosis workshop: From genetics to diagnostic criteria. Am J Med Genet A 161A:405–416CrossRefPubMedGoogle Scholar
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    Hulsebos TJ, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P (2007) Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet 80:805–810PubMedCentralCrossRefPubMedGoogle Scholar
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    Piotrowski A, Xie J, Liu YF et al (2014) Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet 46:182–187PubMedCentralCrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Department of Orthopedics and Joint SurgeryZhejiang Provincial People’s HospitalHangzhouChina
  2. 2.Wenzhou Medical UniversityWenzhouChina

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