Targeted gene under study

OMIM #603704

OMIM #614900


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 – 



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