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Background  The ganglioside-induced differentiation-associated protein 1 gene ( GDAP1 ), which is involved in the Charcot-Marie-Tooth disease (CMT), the most commonly inherited peripheral neuropathy, encodes a protein anchored to the mitochondrial outer membrane. The phenotypic presentations of patients carrying  GDAP1  mutations are heterogeneous, making it difficult to determine genotype-phenotype correlations, since the majority of the mutations have been found in only a few unrelated patients. Locus-specific databases (LSDB) established in the framework of the Human Variome Project provide powerful tools for the investigation of such rare diseases.    Methods and Results  We report the development of a publicly accessible LSDB for the  GDAP1  gene. The  GDAP1  LSDB has adopted the Leiden Open-source Variation Database (LOVD) software platform. This database, which now contains 57 unique variants reported in 179 cases of CMT, offers a detailed description of the molecular, clinical and electrophysiological data of the patients. The usefulness of the  GDAP1  database is illustrated by the finding that  GDAP1  mutations lead to primary axonal damage in CMT, with secondary demyelination in the more severe cases of the disease.    Conclusion  Findings of this nature should lead to a better understanding of the pathophysiology of CMT. Finally, the  GDAP1  LSDB, which is part of the mitodyn.org portal of databases of genes incriminated in disorders involving mitochondrial dynamics and bioenergetics, should yield new insights into mitochondrial diseases.

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K