Kluwe L, Pulst S M, Köppen J, Mautner V F
Department of Neurological Surgery, University Hospital Eppendorf, Hamburg, Germany.
Hum Genet. 1995 Apr;95(4):443-6. doi: 10.1007/BF00208973.
We have analyzed cDNA from a 46-year-old atypical neurofibromatosis type 2 (NF2) patient who had lumbar tumors, cataract and schwannomas of peripheral nerves but no vestibular schwannomas, and have identified a 163-bp deletion in the NF2 transcript. The deletion is predicted to remove 54, alter 15 and add four extra amino acids at the C-terminus of the NF2-gene product. The same deletion was found in her two daughters and in a 3-year-old grandson. Bilateral vestibular schwannomas were detected in the two asymptomatic daughters, whereas no abnormality was found in the grandson.
我们分析了一名46岁非典型2型神经纤维瘤病（NF2）患者的cDNA，该患者患有腰椎肿瘤、白内障和周围神经鞘瘤，但没有前庭神经鞘瘤，并在NF2转录本中鉴定出一个163bp的缺失。预计该缺失会去除54个氨基酸，改变15个氨基酸，并在NF2基因产物的C末端额外添加4个氨基酸。在她的两个女儿和一个3岁的孙子中发现了相同的缺失。在两个无症状的女儿中检测到双侧前庭神经鞘瘤，而孙子未发现异常。
