[Analysis of PRX gene variants in a child with Charcot-Marie-Tooth disease type 4F].

OBJECTIVE

To explore the genetic etiology of a child suspected for peroneal muscular atrophy.

METHODS

The child and his parents were analyzed by using next generation sequencing.

RESULTS

The child was found to harbor compound heterozygous variants of c.52G>T (p.Glu18X) and c.1390C>T (p.Arg464X) of the PRX gene, which were inherited from his father and mother, respectively. Among these, the c.52G>T variant was previously unreported. Based on the standards and guidelines of the American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PM2+PM3, PVS1+PM3-Strong+PM2+BS2).

CONCLUSION

The compound heterozygous variants of the PRX gene probably underlay the Charcot-Marie-Tooth disease type 4F in this child. Above finding has enriched the mutational spectrum of the PRX gene.