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RECRUITINGOBSERVATIONAL

Genotype/Phenotype Correlation of MORC2 Mutations

Deciphering MORC2 Genotype/Phenotype Correlation to Improve Patient Diagnostic

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.

About This Trial

The Microrchidia CW-type zinc finger 2 (MORC2) gene encodes a protein expressed in all tissues and enriched in the brain. It is involved in Charcot-Marie-Tooth disease, with mire than 30 families presenting MORC2 mutations. Recently, MORC2 mutation have been shown to be responsible for more complex phenotypes like DIFGAN: developmental delay, impaired growth, dysmorphic facies and axonal neuropathy. Different mutations are responsible from a diverse spectrum of phenotype, from CMT to DIFGAN. MORC2 is involved, through its ATPase activity, in DNA repair, chromatin remodeling and epigenetic silencing via the Human silencing hub (HUSH) complex. Our hypothesis is that the hypo- or hyper-activation of the HUSH complex by different MORC2 mutations could be responsible for different phenotypes in patients. The aim of this study is to perform a genotype-phenotype correlation study in patients presenting MORC2 mutations.

Who May Be Eligible (Plain English)

Who May Qualify: - Presence of a mutation in the MORC2 gene, identified during an evaluation for peripheral neuropathy or intellectual disability - Patient has undergone electromyography (EMG) or is able to undergo EMG during the inclusion visit - Affiliation with the national health insurance system - willing to sign a consent form from the patient if an adult, or from parents/legal guardians if the patient is a minor Who Should NOT Join This Trial: - Presence of another mutation responsible for peripheral neuropathy or intellectual disability - Refusal to undergo biological sample collection - Regulatory Who Should NOT Join This Trial: - Pregnant, postpartum, or breastfeeding women - Individuals deprived of liberty by judicial or administrative decision - Individuals not affiliated with a social security system or not benefiting from an equivalent health coverage scheme Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language
Inclusion Criteria: * Presence of a mutation in the MORC2 gene, identified during an evaluation for peripheral neuropathy or intellectual disability * Patient has undergone electromyography (EMG) or is able to undergo EMG during the inclusion visit * Affiliation with the national health insurance system * Informed consent from the patient if an adult, or from parents/legal guardians if the patient is a minor Exclusion Criteria: * Presence of another mutation responsible for peripheral neuropathy or intellectual disability * Refusal to undergo biological sample collection * Regulatory exclusion criteria: * Pregnant, postpartum, or breastfeeding women * Individuals deprived of liberty by judicial or administrative decision * Individuals not affiliated with a social security system or not benefiting from an equivalent health coverage scheme

Treatments Being Tested

DIAGNOSTIC_TEST

Skin biopsy

under the arm using a 3 mm punch, with local anaesthesia, in the investigating centres.

DIAGNOSTIC_TEST

Blood sample

3 classical 4ml tubes samples per patients, using the routine blood sampling technique, in the investigating centres. For children, blood sampling volume will be adapted to the patient's weight according to L.1121-1 of the French public health code.

Locations (12)

CHU de Besançon
Besançon, France
CHRU Brest
Brest, France
CHU Grenoble
Grenoble, France
CH de Versailles
Le Chesnay, France
Service de Génétique moléculaire, pharmacogénétique, hormologie Hôpital Bicêtre
Le Kremlin-Bicêtre, France
Hospices Civils de Lyon
Lyon, France
CHU Marseille
Marseille, France
CHU de Nantes
Nantes, France
CH Pitié Salpêtrière
Paris, France
Hôpital Necker
Paris, France
CHU de Saint-Etienne
Saint-Etienne, France
CHU Strasbourg
Strasbourg, France