Targeted gene(s)/phenotype under study

Gene: BMP4 OMIM #112262


We are searching for patients with variants in the BMP4 gene (de novo or inherited, mono or biallelic). Dominant variants in this gene are responsible for a broad spectrum of malformations and signs (ophthalmological, kidney, limbs, developmental delay, intellectual deficiency, cerebral malformations, etc). We have collected six novel patients from four families, and are searching for other patients in order to further delineate the clinical spectrum associated with BMP4 variants.

Coordinating clinicians /researchers

Dr Sandra Whalen and Dr Cyril Mignot
Contact: and


UF de génétique Clinique
APHP Sorbonne Université
Hôpital Armand Trousseau
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? No