Charcot Marie-Tooth on the MCM3P gene
Charcot-Marie-Tooth disease ( CMT ) is an inherited neuropathy that affects the peripheral nerves. It was first described in the late 19th century.
MCM3AP gene malformation occurs due to genetic mutations that disrupt the normal function of nerve cells, leading to muscle weakness and sensory disturbances. This condition progresses gradually and can have a significant impact on the quality of life of those affected.
The MCM3AP gene mutation
Biallelic mutations in the minichromosome maintenance complex component 3-associated protein (MCM3AP, MIM*603294) can lead to autosomal recessive peripheral neuropathy with or without impaired intellectual development (PNRIID, MIM#618124). This early-onset neurological syndrome is often progressive and results in distal motor impairment and walking difficulties, frequently accompanied by loss of ambulation and difficulties with manual dexterity. In addition, most affected individuals have intellectual disability (ID) or learning disabilities (Schuurs-Hoeijmakers et al., 2013; Mert et al., 2017; Ylikallio et al., 2017; Kennerson et al., 2018; Woldegebriel et al., 2020). Eye movement abnormalities, characteristic hand and foot deformities, and scoliosis are some additional features.
