The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome.
J Pediatr Hematol Oncol
; 32(6): 486-8, 2010 Aug.
Article
en En
| MEDLINE
| ID: mdl-20562648
ABSTRACT
SUMMARY:
Denys-Drash syndrome (DDS, Online Mendelian Inheritance in Man number 194080) is a rare human developmental disease generally occurring in 46,XY individuals characterized by the combination of disorder of sex development, early onset nephropathy, and Wilms' tumor (WT). DDS is mainly caused by mutations in the WT1 gene. This report describes a novel WT1 gene mutation in a DDS patient. Sequencing the WT1 gene revealed a heterozygous transversion CAT>AAT within exon 8, causing the substitution of an asparagine for a histidine at residue 377. The p.H377N mutation is predicted to diminish the WT1 protein DNA-binding affinity as it might disrupt the normal zinc finger 2 conformation.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Genes del Tumor de Wilms
/
Síndrome de Denys-Drash
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Idioma:
En
Revista:
J Pediatr Hematol Oncol
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2010
Tipo del documento:
Article