A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema.
Clin Exp Dermatol
; 37(1): 20-3, 2012 Jan.
Article
en En
| MEDLINE
| ID: mdl-21790735
ABSTRACT
C1 inhibitor (C1-INH) deficiency [hereditary or acquired angio-oedema (HAE or AAE)] is characterized by recurring episodes of subcutaneous or submucosal oedema. Many different mutations in the C1-INH gene have been identified as a cause of HAE. We investigated the molecular basis of the disease in a Japanese woman with sporadic HAE. Direct sequencing of genomic DNA revealed no point mutation in the C1-INH gene. Quantitative real-time PCR showed that the copy number of the C1-INH gene in the patient was half that of a healthy control. Furthermore, we identified a 650-kbp deletion on the chromosome, which included the C1-INH gene. We evaluated the correlation between the patient's attacks and her coagulation activity. The levels of D-dimer were high during the angio-oedema attacks, and often exceeded the normal range even during remission, thus the level of D-dimer reflected the activity of HAE in this patient.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Eliminación de Secuencia
/
Proteína Inhibidora del Complemento C1
/
Angioedemas Hereditarios
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Año:
2012
Tipo del documento:
Article