[Analysis of NF1 gene variant in a sporadic case with neurofibromatosis type 1].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(8): 871-874, 2020 Aug 10.
Article
em Zh
| MEDLINE
| ID: mdl-32761598
ABSTRACT
OBJECTIVE:
To explore the genetic basis for a sporadic case with neurofibromatosis type 1 (NF1).METHODS:
Peripheral blood samples were collected from the patient, his unaffected parents and 100 healthy controls. The NF1 gene was detected by PCR and direct sequencing.RESULTS:
The patient was found to carry a novel nonsense variant c.4339C>T (p.Q1447X) in exon 33 of the NF1 gene. The same variant was not found in his unaffected parents and the 100 healthy controls.CONCLUSION:
The c.4339C>T (p.Q1447X) variant probably underlies the pathogenesis of NF1 in this patient.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Genes da Neurofibromatose 1
/
Neurofibromatose 1
/
Neurofibromina 1
Limite:
Humans
/
Male
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
China