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

Area of Science:

• Genetics
• Neurology
• Molecular Biology

Background:

• Peroneal muscular atrophy, a type of Charcot-Marie-Tooth disease, affects peripheral nerves.
• Genetic factors are crucial in the etiology of hereditary neuropathies.

Purpose of the Study:

• To investigate the genetic cause of peroneal muscular atrophy in a pediatric patient.
• To identify novel or known pathogenic variants in the PRX gene.

Main Methods:

• Next-generation sequencing (NGS) was performed on the affected child and his parents.
• Segregation analysis was conducted to confirm variant inheritance patterns.

Main Results:

• The child presented with compound heterozygous variants in the PRX gene: c.52G>T (p.Glu18X) and c.1390C>T (p.Arg464X).
• The c.52G>T variant was novel, while c.1390C>T was previously reported.
• Both variants were classified as pathogenic according to ACMG guidelines.

Conclusions:

• Compound heterozygous PRX gene variants are the probable cause of Charcot-Marie-Tooth disease type 4F in this patient.
• This study expands the known mutational spectrum of the PRX gene in relation to hereditary neuropathies.