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

Stefan Bittmann 1, Luchter E 2, Weissenstein A 3, Villalon G 4

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. 


Keywords


INF 2; mutation; child; CMT disease

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References


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DOI: http://dx.doi.org/10.24294/jpedd.v2i2.937

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