Further delineation of the phenotypic spectrum associated to BMP4 pathogenic variants

Targeted gene(s)/phenotype under study :

  • Gene: BMP4 OMIM #112262

Abstract :

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
  • Dr Cyril Mignot

Institution :

UF de génétique Clinique,

APHP Sorbonne Université,

Hôpital Armand Trousseau,

Paris – France

Contact : 

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