Targeted gene under study
OMIM #603704
OMIM #614900
Abstract
Diamond-Blackfan anemia-11 (DBA11 OMIM #614900) is caused by heterozygous mutation in the RPL26 gene (OMIM#603704) on chromosome 19q13. One such family has been reported to date in the literature in a 3.5-year-old girl with isolated cleft palate, ear anomalies, unilateral kidney agenesis, radial ray anomalies, anemia and neutropenia.
We found a novel family affected with syndromic radial malformations, functional studies are on-going.
In order to better describe the phenotype associated with the RPL26 gene, we are calling for additional cases.
Coordinating clinicians/researchers
Florence PETIT – florence.petit@chu-lille.fr
Clémence VANLERBERGHE – clemence.vanlerberghe@chu-lille.fr
Institution
Service de médecine génomique des maladies rares, Hôpital Necker-enfants maladies, Paris, France
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: Yes