Analysis of a patient with severe Hemophilia A due to a large duplication of F8 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 72-75, 2022.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-928365
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To report on a case with severe hemophilia A (HA) due to a large duplication of F8 gene.@*METHODS@#Inversion detection, Sanger sequencing, and multiplex ligation-dependent probe amplification (MLPA) were used to detect the mutation in the proband and his mother.@*RESULTS@#The patient, a 7-year-old boy, was diagnosed with severe HA at 8 months. No inhibitor was developed over 150 exposure days. Intronic inversion detection and Sanger sequencing have failed to identify pathogenic variants, while MLPA revealed a large duplication [Ex 1_22 dup (2 copies)] in the proband, for which his mother was a carrier [Ex 1_22 dup (3 copies)]. Large duplications of the F8 gene have so far been found in 24 HA patients, all of whom had a severe phenotype, only one had a history of inhibitors.@*CONCLUSION@#Large duplications of F8 gene are associated with severe HA. The diagnostic rate for HA may be increased by MLPA.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Fator VIII
/
Íntrons
/
Duplicação Gênica
/
Hemofilia A
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Criança
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2022
Tipo de documento:
Artigo