Targeted gene(s)/phenotype under study
RHOA-related mosaic neuroectodermal disorder, OMIM # 618727
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.
Dr. Arthur Sorlin
Prof. Paul Kuentz
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