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Am J Hum Genet. 2007 Apr;80(4):805-10. Epub 2007 Feb 16.

Germline mutation of INI1/SMARCB1 in familial schwannomatosis.

Author information

1
Department of Neurogenetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. t.j.hulsebos@amc.uva.nl

Abstract

Patients with schwannomatosis develop multiple schwannomas but no vestibular schwannomas diagnostic of neurofibromatosis type 2. We report an inactivating germline mutation in exon 1 of the tumor-suppressor gene INI1 in a father and daughter who both had schwannomatosis. Inactivation of the wild-type INI1 allele, by a second mutation in exon 5 or by clear loss, was found in two of four investigated schwannomas from these patients. All four schwannomas displayed complete loss of nuclear INI1 protein expression in part of the cells. Although the exact oncogenetic mechanism in these schwannomas remains to be elucidated, our findings suggest that INI1 is the predisposing gene in familial schwannomatosis.

PMID:
17357086
PMCID:
PMC1852715
DOI:
10.1086/513207
[Indexed for MEDLINE]
Free PMC Article

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