2008
DOI: 10.21236/ada585790
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Mia MacCollin,
Scott R. Plotkin

Abstract: In 2007, mutations in the SMARCB1 tumor suppressor (also known as INI1 and hSNF5), which lies in the familial schwannomatosis candidate region, were detected on a somatic and constitutional level in a single kindred with schwannomatosis. We have completed our study of 19 schwannomatosis kindreds who were unrelated to the best of the study participants' knowledge. Overall, we identified potentially causative constitutional alterations in 13 families, including 2 missense mutations (in 3 families), 4 splice site…

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