頁籤選單縮合
題名 | Molecular Characterization of Germline Mutations in Neurofibromatosis 2 in Two Families=多發性神經纖維瘤NF2基因之分子特性--在二個家族的觀察 |
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作者 | 陳翰容; 鄧旭真; 李水龍; | 書刊名 | 臺灣醫學會雜誌 |
卷期 | 97:12 1998.12[民87.12] |
頁次 | 頁869-872 |
分類號 | 415.9 |
關鍵詞 | 多發性神經纖維瘤NF2基因; 分子特性; Neurofibromatosis 2; Schwannoma; Tumor suppressor gene; Phenotype; |
語文 | 英文(English) |
英文摘要 | Neurofibromatiosis 2 (NF2) is an autosomal dominant disorder that predisposes patients to central nervous system tumors. It is caused mutations in the NF2 tumor suppressor gene, which is located on chromosome 22q12. We studied 2 multigenerational NF2 families (three members of family 1 and the proband of the family ) by gene mutation analysis and clinical assessment. One member of family 1 had a 169 C �A T point mutation at condon 57 of exon 2 and had a severe phenotype. His father had a silent 1113 C �A T point mutation at codon 371 of exon 11 and had a normal phenotype. The prband of family 2 had a deletion at uncleotide 720 G (codon 240) of exon 8. This led to a frameshift and termination at codon 250, and a severe NF2 phenotype. Our results indicate that clinical abnormalities can be present in carriers. Nonsense and frameshift mutations in the NF2 tumor suppressor gene are associated with phenotypes. The clinical abnormalities can develop at a young age. |
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