Novel compound variants in IGHMBP2 associated with CMT

Charcot-Marie-Tooth diseases (CMT) are a group of inherited peripheral nerve disorders clinically characterized by sensory loss, muscle weakness, and atrophy in distal limbs. CMTs are classified into demyelinating and axonal types based on reduced conduction velocities (CV) in the former (type-I) but normal in the latter (type-II). Recessive variants in IGHMBP2 have been reported to cause an axonal CMT (CMT2S). IGHMBP2 encodes Immunoglobulin helicase μ-binding protein 2, an enzyme involved in the protein translation process.