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Targeted gene(s)/phenotype under study
AMER1
Abstract
Osteopathia striata with cranial sclerosis (OSCS) is a rare X-linked disorder due to AMER1 mutations. Males present a severe form which is usually lethal before birth. Female patients show macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae alongside other systemic anomalies.
There are about one hundred cases described in the literature.
We are looking to form a European cohort to bring further insight into OSCS and we already have 5 patients from France.
Coordinating clinicians/researchers
Martine DOCO-FENZY
Contact: mdocofenzy@chu-reims.fr ; hthorn@chu-reims.fr
Institution
Genetic department
CHU de REIMS
Reims, 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? Yes