A de novo mutation leading to Marfan syndrome in a case / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 162-165, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-879546
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child featuring unexplained rapid growth and heart malformation.@*METHODS@#Whole exome sequencing (WES)was carried out for the patient. Suspected variant was verified by Sanger sequencing and subjected to bioinformatic analysis.@*RESULTS@#The child was found to harbor a novel de novo c.5846_5848delATA (p. N1949del) variant in exon 48 of the FBN1 gene, which was predicted to be pathogenic by Mutation Taster. The patient was ultimately diagnosed with Marfan syndrome.@*CONCLUSION@#Above finding has enriched the spectrum of genetic variants associated with Marfan syndrome. WES has provided a powerful tool for the diagnosis of rare diseases.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Éxons
/
Deleção de Sequência
/
Fibrilina-1
/
Sequenciamento do Exoma
/
Cardiopatias Congênitas
/
Síndrome de Marfan
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Criança
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo
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