A family of neurofibromatosis type Ⅰ: a clinical feature and gene mutation analysis
10.3760/cma.j.cn115354-20201218-00977
- VernacularTitle:神经纤维瘤病Ⅰ型一家系临床特点及基因突变分析
- Author:
Zhihui TANG
1
;
Daoqi MEI
;
Shiyue MEI
;
Yuan WANG
;
Guohong CHEN
;
Yanli MA
;
Yiran ZHAO
Author Information
1. 郑州大学附属儿童医院，河南省儿童医院，郑州儿童医院东区神经内科，郑州 450018
- Keywords:
Neurofibromatosis type 1;
Café au lait spot;
Epilepsy
- From:
Chinese Journal of Neuromedicine
2021;20(8):787-792
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the clinical features of a family of neurofibromatosis type I (NF1) and its NF1 gene mutation characteristics. Methods:The clinical data of a family of NF1 admitted to our hospital in May 2020 were collected. The proband was sequenced with NF1/ NF2 panel using second-generation sequencing. Sanger sequencing verification analysis was performed on the family members. The clinical characteristics of the proband and other family members were summarized and their gene mutations were analyzed. Results:The proband (V 2), a 1-year and 2-month old girl, had multiple Café au lait spots on the skin at birth, normal mental and motor development, and focal epileptic seizures in infancy. The father (IV 3), grandmother (III 2), and other 2 family members (II 2, I 2) in the family all had Café au lait spots or neurofibromatous changes without seizures. The mother's phenotype was normal. The proband had a heterozygous mutation in the NF1 gene, and the mutation site C.83-84delAG (P.N29Hfs*8) was a frameshift heterozygous mutation. After verification analysis by Sanger sequencing, the pathogenic genes of the father and grandmother were consistent with the proband, which was in line with the characteristics of heterozygous mutation in NF1 gene, dominant inheritance. Conclusion:NF1 is caused by NF1 gene mutation; the early clinical manifestations mostly include café-au-lait spots, and some have seizures; patients with multiple café-aulait spots with seizures should be diagnosed by genetic analysis as soon as possible.
