Targeted syndrome under study:
CCDC78 (OMIM ## 614807)
Abstract
CCDC78 was identified as a novel candidate gene for autosomal dominant centronuclear myopathy-4 approximately ten years ago (Majczenko et al, 2012). The features included neonatal hypotonia, muscle weakness, myalgias, mild-to-moderate overall motor impairment, and mild cognitive involvement. Recently, we described the second family harbouring a CCDC78 mutation and we provided insight, for the first time, into the interactors and possible role of CCDC78 in skeletal muscle, locating the protein in the sarcoplasmic reticulum (Lopergolo et al, 2024). However, to date, literature data about genotype-phenotype correlation and evolution of the clinical phenotype over time are limited to single cases. We have collected a few novel patients with CCDC78 mutations. The aim of this study is to collect clinical and molecular data of patients with CCDC78 mutations in order to better define the main clinical features and establish a genotype-phenotype correlation.
Coordinating clinician
Dr. Diego Lopergolo – diego.lopergolo@unifi.it
Institution
Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No