Study on MORC2 Gene Mutations and Their Effects on Charcot-Marie-Tooth Disease and DIFGAN Syndrome

What this Trial Is About

Researchers are studying the relationship between mutations in the MORC2 gene and the variety of symptoms seen in patients with related neurological and developmental conditions. This includes Charcot-Marie-Tooth disease and a more complex condition called DIFGAN, which involves developmental delay, impaired growth, distinct facial features, and axonal neuropathy. The study aims to better understand how different mutations affect patients by examining their genetic and clinical characteristics. Participants include those with length-dependent sensitive-motor axonal neuropathy, patients diagnosed with DIFGAN syndrome, and a control group without neurological disorders. The study involves collecting biological samples such as skin biopsies and blood samples to analyze epigenetic biomarkers and nucleic acid and protein levels in serum and cerebrospinal fluid. These tests are performed during the inclusion visit at specialized centers. During the study, participants will undergo electromyography EMG if not already done, and their biological samples will be collected for detailed laboratory analysis. Researchers will measure epigenetic biomarker levels and perform RNA sequencing to explore gene expression. The study also monitors specific biomarkers in blood and cerebrospinal fluid to better characterize the genotype-phenotype correlations. The study is expected to continue until June 2027.

Genotype/Phenotype Correlation of MORC2 Mutations