Diamond-Blackfan anaemia (DBA is a congenital disease characterized by defective erythroid progenitor maturation ; 30% of patients have congenital malformations.
The link between these malformations and defective erythropoiesis is unclear : a defect in a molecule acting both on embryo development and haemopoiesis has been proposed.
Inheritance is autosomal dominant in most familial cases, but recessive families have also been reported.
Many cases are sporadic.
A DBA locus has been mapped on chromosome 19q13. 2 (Gustavsson et al, 1997), but several families unlinked to this locus have also been reported (Gustavsson et al. 1998).
This paper presents clinical, epidemiological and molecular data for DBA in the Italian population.
Segregation analysis of 19q markers in patients with DBA showed exclusion of this locus in 5/12 families with inherited DBA.
There was evidently locus heterogeneity for DBA in this population.
A new microdeletion was identified in one patient.
Other families, in which DBA segregates concordantly with the 19q critical region, suggest incomplete penetrance and expressivity of the DBA gene.
Mots-clés Pascal : Anémie hypoplasique Blackfan Diamond, Pénétrance génique, Incidence, Epidémiologie, Analyse ségrégation, Expression génique, Malformation, Erythropoïèse, Italie, Europe, Etude familiale, Développement embryonnaire, Homme, Hémopathie, Maladie congénitale, Maladie héréditaire
Mots-clés Pascal anglais : Blackfan Diamond disease, Gene penetrance, Incidence, Epidemiology, Segregation analysis, Gene expression, Malformation, Erythropoiesis, Italy, Europe, Family study, Embryonic development, Human, Hemopathy, Congenital disease, Genetic disease
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0199810
Code Inist : 002B19A01. Création : 16/11/1999.