© 1993 Oxford University Press
RESEARCH-ARTICLE |
Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus
1Center for Research in Neuroscience, McGil University and the Montreal General Hospital Research Institute Montreal, Canada 2Laboratoire de Génétique des Tumeurs, INSERM CJF9201, Instrtut Curie Pans, France 3Ludwig Institute for Cancer Research and Department of Clinical Genetics, Karofinska Hospital Stockholm, Sweden 4Center for Human Genetics, McGil University and the Montreal General Hospital Research Institute Montreal, Canada 5Unit for Mechanisms of Cardnogenests, International Agency for Research on Cancer Lyon, France
*To whom correspondence should be addressed at: Department of Neurology, Montreal General Hospital, 1650 Cedar Avenue, Montreal, H3G 1A4, Canada
Received March 29, 1993; Revised June 2, 1993; Accepted June 2, 1993
Neurofibromatosis type 2 (NF2) is an autosomal dominant disease which predisposes to the development of schwannomas, meningiomas, ependymomas, and juvenile cataracts. The NF2 gene (NF2) has recently been isolated and maps to chromosome 22q12 between the loci D22S212 and D22S32. Deletion studies in sporadic and NF2 associated schwannomas and meningiomas, and the presence of Inactivating mutations in NF2 in patients suggest that it acts as a tumor suppressor gene. A candidate meningioma gene (MEN) has also been isolated from the same Interval. A new highly polymorphic (CA)n marker, D22S268, which maps very near to NF2, has allowed us to Identify a kindred with three living affected individuals, where the disease Is presumably caused by a large germline deletion. Fluorescence in situ hybridization and pulsed field gel electrophoresis confirm the presence of a 700kb deletion which includes the neurofllament heavy chain subunit gene locus (NEFH), D22S268, NF2 and the putative MEN gene. The absence of meningiomas In this pedigree raises doubts as to the existence of a separate MEN locus In this region. These results support the hypothesis that NF2 results from the Inactivation of a tumor suppressor gene on chromosome 22q.
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