Deciphering MORC2 Genotype/Phenotype Correlation to Improve Patient Diagnostic

What this Trial Is About

Researchers are studying mutations in the MORC2 gene, which is linked to Charcot-Marie-Tooth disease and a more complex condition called DIFGAN that includes developmental delay, impaired growth, distinct facial features, and nerve problems. This study aims to understand how different mutations in MORC2 cause a range of symptoms by analyzing the relationship between genetic changes and patient characteristics. Participants include those with length-dependent sensitive-motor axonal neuropathy, individuals with DIFGAN syndrome, and a control group without neurological disorders. Diagnostic tests involve skin biopsies under local anesthesia and blood samples, which are adapted for children based on weight. This observational study collects data at the time of inclusion without administering treatments. Participants will undergo assessments including electromyography and collection of biological samples such as blood and skin tissue. Researchers will measure epigenetic biomarkers, RNA, and various protein and nucleic acid markers in serum and cerebrospinal fluid. The study ensures informed consent, follows strict inclusion criteria, and involves monitoring at the initial visit. Participation duration varies as this is an observational study starting in September 2025.

Genotype/Phenotype Correlation of MORC2 Mutations