Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1.
Linlin ChenFeng XueJia XuJinwei HeWenzhen FuZhenlin ZhangQinglin KangPublished in: Molecular genetics & genomic medicine (2019)
Novel pathogenic variants in the NF1 gene in these families correlated with the phenotype and genotype and explained the clinical manifestations of these patients. The results help us to understand the genetic basis of patients with neurofibromatosis type 1 in China. Our study expands the pathogenic variant spectrum of the NF1 gene and may be helpful in genetic counseling and prenatal genetic diagnosis.
Keyphrases
- copy number
- genome wide
- signaling pathway
- lps induced
- dna methylation
- end stage renal disease
- oxidative stress
- nuclear factor
- pi k akt
- ejection fraction
- newly diagnosed
- chronic kidney disease
- genome wide identification
- smoking cessation
- inflammatory response
- gene expression
- patient reported outcomes
- cell proliferation
- men who have sex with men
- hiv infected
- hepatitis c virus