Targeted gene under study

TMEM53 / Craniotubular dysplasia, Ikegawa type (OMIM # 619727)


TMEM53 pathogenic variants have been associated with bone disease characterised by a hyperostosis of the calvaria and the skull base, mild platyspondyly, metaphyseal dysplasia and mild shortening and diaphyseal broadening of the short tubular bones.

To date, only four families have been described. We would like to better describe TMEM53-associated phenotype.

Coordinating clinicians/researchers

Dr Pauline Marzin – 


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: No