期刊
JOURNAL OF MEDICAL GENETICS
卷 42, 期 1, 页码 45-48出版社
B M J PUBLISHING GROUP
DOI: 10.1136/jmg.2004.023705
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Objective: To screen for NF2 mutations in people with meningiomas. Methods: Lymphocyte or tumour DNA was analysed from 46 individuals from 36 families who presented with a meningioma at age less than or equal to 15 years without vestibular schwannoma ( VS), or who had multiple meningiomas in adulthood before the diagnosis of VS. Results: Eight of 13 people with meningioma and other features of neurofibromatosis 2 ( NF2) had an identified constitutional NF2 mutation in blood DNA, but none of the other subjects had identified constitutional NF2 mutations. Conclusions: Constitutional NF2 mutations are the most likely cause of meningioma in children and in people with a meningioma plus other non- VS features of NF2. Mosaic NF2 may be the cause of about 8% of multiple meningiomas in sporadic adult cases, but there are other causes in the majority of other such patients and in multiple meningioma in families.
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