Genetic testing and clinical analysis of a patient with Dilated cardiomyopathy due to variant of FLNC gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1551-1555, 2023.
Article
en Zh
| WPRIM
| ID: wpr-1009339
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a patient with Dilated cardiomyopathy.@*METHODS@#A patient admitted to Beijing Anzhen Hospital Affiliated to Capital Medical University in April 2022 was selected as the study subject. Clinical data and family history of the patient was collected. Targeted exome sequencing was carried out. Candidate variant was verified by Sanger sequencing and bioinformatic analysis based on guidelines of the American College of Medical Genetics and Genomics (ACMG).@*RESULTS@#DNA sequencing revealed that the patient has harbored a heterozygous c.5044dupG frameshift variant of the FLNC gene. Based on the ACMG guidelines, the variant was predicted to be likely pathogenic (PVS1+PM2_Supporting+PP4).@*CONCLUSION@#The heterozygous c.5044dupG variant of the FLNC gene probably underlay the pathogenesis in this patient, which has provided a basis for the genetic counseling for his family.
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Cardiomiopatía Dilatada
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Pruebas Genéticas
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Mutación del Sistema de Lectura
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Biología Computacional
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Filaminas
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Asesoramiento Genético
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Mutación
Límite:
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2023
Tipo del documento:
Article