[Analysis of NF1 gene variants among thirteen patients with neurofibromatosis type 1].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(9): 829-832, 2021 Sep 10.
Article
em Zh
| MEDLINE
| ID: mdl-34487523
ABSTRACT
OBJECTIVE:
To detect variants of NF1 gene among thirteen patients with neurofibromatosis type 1.METHODS:
Genomic DNA was extracted from peripheral blood samples of the patients. High-throughput sequencing was employed to detect potential variants of the NF1 and NF2 genes.RESULTS:
Thirteen pathogenic variants were identified among the patients, which included one NF1 deletion, three missense variants, three nonsense variants and six frameshifting variants. Among these, 10 variants have been associated with neurofibromatosis type 1. c.4180A>T (p.Asn1394Tyr), c.4217dupT (p.Leu1406fs) and c.1753dupT(p.Leu585Phefs*3) were unreported previously. Based on the guidelines of the American College of Medical Genetics and Genomics, c.4180A>T (p.Asn1394Tyr) was predicted to be likely pathogenic (PS2+PM1+PM2+PP2), while c.4217dupT (p.Leu1406fs) and c.1753dupT (p.Leu585Phefs*3) were predicted to be pathogenic (PVS1+PS2+PM2).CONCLUSION:
Variants of the NF1 gene probably underlay the disease among these children. Above findings have enriched the the spectrum of NF1 gene variants.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Genes da Neurofibromatose 1
/
Neurofibromatose 1
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
China