Targeted gene under study
ANO5/ Gnathodiaphyseal dysplasia (OMIM #166260)
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.
Dr Catherine VINCENT-DELORME
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