A new variante of INF2-gene mutation: Correlation with Charcot-Marie-Tooth type E neuropathy?

Abstract

Charcot-Marie-Tooth disease (CMT) affects 1 in 2500 people and more than 30 gene mutations play a causative role. It is the eponym for heritable peripheral neuropathy and is named for 3 investigators in the late 1800s. Different forms of CMT exist and the classification is still not completely ruled out. Mutations of the inverted formin-2 gene (INF-2) were identified in patients with focal segmental glomerulosclerosis^[1] (FSGS) and autosomal dominant intermediate Charcot-Marie Tooth (DI-CMT) disease. A novel unclassified variante, c.2659GA; p.E887K(het.), located on chromosome 14q32.33, was identified in a 21 months old child with unknown peripheral neuropathy and muscular weakness. The mutation leads to a change of amino acid glutamate to lysine in position 887. This variante was not described yet in world literature.