1994 Fiscal Year Final Research Report Summary
ANALYSIS OF NEUROFIBROMATOSIS GENE
| Project/Area Number |
04670651
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
Dermatology
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| Research Institution | THE TOKYO JIKEI UNIVERSITY SCHOOL OF MEDICINE |
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Principal Investigator |
HONDA Mariko THE TOKYO JIKEI UNIVERSITY SCHOOL OF MEDICINE,DERMATOLOGY,ASSISTANT PROFESSOR, 医学部, 講師 (20100919)
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| Co-Investigator(Kenkyū-buntansha) |
SAWADA Shunichi THE TOKYO JIKEI UNIVERSITY SCHOOL OF MEDICINE,DERMATOLOGY,ASSISTANT, 医学部, 助手 (50187291)
OHTA Arihito THE TOKYO JIKEI UNIVERSITY SCHOOL OF MEDICINE,DERMATOLOGY,ASSISTANT, 医学部, 助手 (20168933)
NIIMURA Michihiro THE TOKYO JIKEI UNIVERSITY SCHOOL OF MEDICINE,DERMATOLOGY,PROFESSOR, 医学部, 教授 (00010190)
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| Project Period (FY) |
1992 – 1994
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| Keywords | GENE LOCUS / NEURILEMMOMATOSIS / NEUROFIBROMATOSIS 2 |
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| Research Abstract |
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by the occurrence of bilateral acoustic neuromas, as well as meningiomas and schwannomas. The gene locus for NF2 resides on chromosome 22q12 and has been cloned recently. Neurilemmomatosis is characterized by multiple cutaneous and spinal schwannomas without other sings of NF1 or NF2. Many cases with this disorder, include the diagnosis of neurofibromatosis or other rare diseases unexplained by current nosology.
In this study we analyzed the peripheral leukocytes and tissue from cutaneous neurilemmomas from seven patients with neurilemmomatosis using DNA markers for different regions of chromosome 22. We detected allelic losses in three of seven patients with a probe for the NF2 region of the long arm of chromosome 22 and the germ-line mutations in twomof three tumors from the same threepatients. Mutations in the NF2 gene were a deletion from at least codon 334 to 579 and G insertion at codon 42. We conclude that the neurilemmomatosis locus lies within the NF2 region and that these diseases might be identical.
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