Clinical Research
A family of neurofibromatosis type Ⅰ: a clinical feature and gene mutation analysis
Tang Zhihui, Mei Daoqi, Mei Shiyue, Wang Yuan, Chen Guohong, Ma Yanli, Zhao Yiran
Published 2021-08-15
Cite as Chin J Neuromed, 2021, 20(8): 787-792. DOI: 10.3760/cma.j.cn115354-20201218-00977
Abstract
ObjectiveTo summarize the clinical features of a family of neurofibromatosis type I (NF1) and its NF1 gene mutation characteristics.
MethodsThe 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.
ResultsThe proband (V2), 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 (IV3), grandmother (III2), and other 2 family members (II2, I2) 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 theNF1 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.
ConclusionNF1 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.
Key words:
Neurofibromatosis type 1; Café au lait spot; Epilepsy
Contributor Information
Tang Zhihui
Department of Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, East Branch of Zhengzhou Children's Hospital, Zhengzhou 450018, China
Mei Daoqi
Department of Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, East Branch of Zhengzhou Children's Hospital, Zhengzhou 450018, China
Mei Shiyue
Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Engineering Research Center of Childhood Neurodevelopment, Zhengzhou 450018, China
Wang Yuan
Department of Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, East Branch of Zhengzhou Children's Hospital, Zhengzhou 450018, China
Chen Guohong
Department of Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, East Branch of Zhengzhou Children's Hospital, Zhengzhou 450018, China
Ma Yanli
Department of Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, East Branch of Zhengzhou Children's Hospital, Zhengzhou 450018, China
Zhao Yiran
Department of Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, East Branch of Zhengzhou Children's Hospital, Zhengzhou 450018, China
