[Analysis of a patient with early-onset Parkinson's disease and PARK7 gene variation].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(10): 957-960, 2019 Oct 10.
Article
em Zh
| MEDLINE
| ID: mdl-31598935
ABSTRACT
OBJECTIVE:
To explore the genetic basis of a patient with early-onset Parkinson disease from a consanguineous family.METHODS:
Homozygosity mapping and Sanger sequencing of cDNA were used to identify the causative mutation.RESULTS:
A homozygous missense variation (c.56C>G, p.Thr19Arg) in the PARK7 gene was identified in the patient. In silico analysis suggested the c.56C>G variation to be pathogenic.CONCLUSION:
Homozygous c.56C>G variation of the PARK7 gene was the disease-causing variation in this family.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
/
Proteína Desglicase DJ-1
Limite:
Humans
Idioma:
Zh
Ano de publicação:
2019
Tipo de documento:
Article