Gene/disorder under study
RRAGC (OMIM # 608267), Long-Olsen-Distelmaier syndrome (OMIM # 620609)
Abstract
Recently, de novo germline RRAGC variants have been identified in young children with severe
cardiomyopathy, eye problems, cerebral abnormalities and premature death (PMID
37057673). We have detected a RRAGC variant in a young adult with congenital bilateral
cataracts and severe cardiomyopathy requiring heart transplantation. We are looking for
additional individuals with germline RRAGC variants to further delineate the phenotypic
spectrum. We are also performing functional studies to provide evidence of pathogenicity of
the RRAGC variants.
Coordinating clinician
Dr. Judith Verhagen – j.m.a.verhagen@erasmusmc.nl
Institution
Erasmus MC University Medical Center, Rotterdam, the Netherlands
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: Yes