So far, only a few mutations of PSMC3 were identified and the relatively small number of affected individuals identified precludes the accurate definition of the phenotype from preliminary data. Besides, the pathomechanism of the disorder is barely known.
We therefore designed a follow-up study aiming at:
• identifying additional affected patients with variants in PSMC3
• refining and/or expanding the clinical spectrum associated with PSMC3 mutations
• exploring more in depth the molecular signatures and pathophysiological mechanism related to PSMC3 mutations; this steps involves investigation on patient cells.
For participating in the study we require:
• clinical and genetic information (mandatory)
• photographs to assess dysmorphic features (optional)
• blood samples from the patient and controls (biological parents or even siblings) to assess the pathogenicity of the variants identified (optional)
Clinicians can submit clinical data directly into the database.
Instructions for the clinician involved:
• please request written consent for the use and storage of medical information with or without photographs.
PSMC3