Identification of a novel NF1 mutation in a Chinese family affected with neurofibromatosis type I / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 132-135, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-775796
ABSTRACT
OBJECTIVE@#To explore the molecular basis for a Chinese family affected with neurofibromatosis type I.@*METHODS@#Peripheral blood samples were collected from the proband and his parents. Potential mutations of NF1 gene were screened by PCR and Sanger sequencing. Pathogenicity of candidate mutations was analyzed using Polyphen-2 and Provean software.@*RESULTS@#Two mutations of the NF1 gene, including c.702G>A (synonymous mutation) and c.1733T>G (missense mutation), were discovered in the proband. Neither mutation was found in his parents and 50 healthy controls. Bioinformatics analysis indicated that the c.1733T>G mutation (p.Leu578Arg) was probably damaging. The affected codon L578 is highly conserved across various species.@*CONCLUSION@#The c.1733T>C mutation of the NF1 gene probably underlies the neurofibromatosis type I in this family.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Genes, Neurofibromatosis 1
/
Neurofibromatosis 1
/
Neurofibromin 1
/
Asian People
/
Genetics
/
Mutation
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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