Identification of two novel Parkin gene mutations in a patient affected with Juvenile Parkinson's syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 344-347, 2019.
Article
en Zh
| WPRIM
| ID: wpr-772011
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To explore the clinical and genetic features of a patient suspected with Juvenile Parkinson's syndrome (JP).@*METHODS@#Clinical features of the patient were analyzed. Genomic DNA of the patient and his parents was extracted from peripheral blood samples and sequenced by exome capture sequencing. The nature and impact of detected mutations were predicted and validated.@*RESULTS@#The patient displayed typical features including resting tremor, bradykinesia, rigidity, but with excellent response to low dose levodopa. DNA sequencing showed that she has carried compound heterozygous mutations of the Parkin gene, namely c.1381dupC and c.619-1G>C, which were respectively inherited from his mother and father. Neither mutation was reported previously. Bioinformatic analysis predicted that both mutations are pathogenic.@*CONCLUSION@#The patient has JP caused by mutations of the Parkin gene. Exome capture sequencing is an accurate and efficient method for genetic diagnosis of such disease.
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Enfermedad de Parkinson
/
Secuencia de Bases
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Ubiquitina-Proteína Ligasas
/
Secuenciación del Exoma
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Mutación
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adolescent
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Female
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Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Article