Novel in-frame deletion mutation c.177179del TAC of neurofibromatosis type 1 in a Chinese 4-year-old boy with binocular blindness

• 作者: Jia Zhang Jie Peng Pei-Quan Zhao Qi Zhang Zhi-Rong Yao
• 来源期刊: 国际眼科杂志：英文版
• 学科: 医学
• 年，卷（期）: 2015,（5）
• 页码范围: 1078-1079
• 页数: 0页
• 分类号: R739.4

摘要

<正>Dear editor,I am Dr.Jie Peng,from the Department of Ophthalmology,Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai,China.I write to present a case report of a novel in-frame deletion mutation c.177179del TAC of neurofibromatosis type 1 in a Chinese boy with bilateral blindness.Neurofibromatosis type 1（NF1;OMIM#162200）,an autosomal dominant disease,is caused by mutations in the NF1gene.The incidence of this disease is around 1 in 3500