Closed

Targeted gene under study

ANO5/ Gnathodiaphyseal dysplasia (OMIM #166260)

Abstract

Gnathodiaphyseal dysplasia is a rare autosomal dominant skeletal condition characterized by the association of generalized osteopenia with fractures, cemento-osseous lesions of the jaws and bowed long bones. This syndrome is due to heterozygous ANO5 gain-of-function alterations. 
We aim to report a new fetal case with severe phenotype and collect clinical and molecular data of more patient with Gnathodiaphyseal dysplasia, in order to precise the phenotype.

Coordinating clinicians/researchers

Dr Catherine VINCENT-DELORME

catherine.delorme@chu-lille.fr  vivien.cuvelier@chu-lille.fr

Institution     

Department of Clinical Genetics, Lille University Hospital, 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