Targeted gene(s)/phenotype under study
RHOA-related mosaic neuroectodermal disorder, OMIM # 618727
Abstract
In 2019, we described the RHOA-related mosaic neuroectodermal disorder as a clinically recognizable syndrome, combining facial dysmorphism, linear hypopigmentation, alopecia, leukoencephalopathy, and ocular, dental and acral anomalies. RHOA sequencing is now offered as a diagnosis test by several labs, and more patients were diagnosed with this disorder.
We aim to gather clinical and molecular data of additional patients with a mosaic RHOA mutation (confirmed or suspected), in particular older patients, in order to better delineate the clinical spectrum of this disorder.
Coordinating clinicians/researchers
Dr. Arthur Sorlin
arthur.sorlin@lns.etat.lu
Prof. Paul Kuentz
Institution
National Center of Genetics, Laboratoire national de santé, Luxembourg
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