NDLI: RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas

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RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas

Content Provider	Springer Nature Link
Author	Melean, German Velasco, Ana Hernández Imaz, Elisabete Rodríguez Álvarez, Francisco Javier Martín, Yolanda Valero, Ana Hernández Chico, Concepción
Copyright Year	2012
Abstract	Germline mutations in the SMARCB1 gene cause familial schwannomatosis, a condition characterized by the presence of multiple schwannomas, although mutations in SMARCB1 have also been associated with rhadboid tumor predisposition syndrome 1 (RTPS1). Both schwannomatosis and RTPS1 are autosomal dominant conditions that predispose individuals to develop distinct types of tumors. We clinically and genetically characterized two families with schwannomatosis associated with SMARCB1 mutations. Eight affected members of these families developed different numbers of schwannomas and/or meningiomas at distinct ages, evidence that meningiomas are variably expressed in this condition. We identified two germline mutations in SMARCB1 associated with the familial disease, c.233-1G>A and the novel c.207_208dupTA mutation, which both proved to affect the main SMARCB1 isoforms at the RNA level distinctly. Interestingly, the c.207_208dupTA mutation had no effect on the coding sequence, pre-mRNA splicing or the level of expression of the SMARCB1 isoform 2. Furthermore, SMARCB1 isoforms harboring a premature termination codon were largely eliminated via the nonsense-mediated mRNA decay pathway. Our results highlight the importance of RNA-based studies to characterize SMARCB1 germline mutations in order to determine their impact on protein expression and gain further insight into the genetic basis of conditions associated with SMARCB1 mutations.
Starting Page	267
Ending Page	274
Page Count	8
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	13
Issue Number	3
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2012-07-01
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Familial schwannomatosis Meningiomas SMARCB1 gene mRNA SMARCB1 isoforms Nonsense-mediated mRNA decay (NMD) pathway Neurosciences Molecular Medicine Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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