Dra. Teresa Sevilla and Dr. Rafael Sivera of the Hospital de la Fe, are conducting a study to collect all patients from Spain with CMT caused by mutations in the MORC2 gene and make a genotype-phenotype description. It is believed that it is a subtype of CMT that is not as rare as it seems and it is worthwhile to gather all the patients to better characterized the phenotype. This study will be similar to the multicenter study of GDAP1 that was previously done (Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain), but in a less frequent and worse characterized subtype. We will also use the data contained in the Hereditary Neuropathy registry of CIBERER for patients with this mutation and for the collection of data from new patients. As always they are collaborative projects where the authorship of the publication is shared.
All those who have patients with mutations in this gene can contact Rafa Sivera (rafasivera@gmail.com), with Dra Sevilla (sevilla_ter@gva.es) or with Sonia Segovia (ssegovia@santpau.cat). We will see if the data are already entered and the need to complement them with extra information.
If you have a patient with a phenotype suggestive of this gene, but you have not been able to do the genetic study, let us know maybe we could do it in Valencia.