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

Stefan Bittmann, Luchter E, Weissenstein A, Villalon G

Article ID: 937
Vol 2, Issue 2, 2018, Article identifier:

VIEWS - 1382 (Abstract) 261 (PDF)

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

Full Text:

PDF


References


Park HJ, Kim HJ, Hong YB, et al. A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis. J Peripher Nerv Syst 2014;19 (2): 175-9.

Caridi G, Lugani F, Dagnino M, et al. Novel INF2 mutations in an italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy. Nephrol Dial Transplant 29.2014; Suppl 4: 80-6.

Kundu AK. Charcot in medical eponyms. J Assoc Physicians India 2004; 52: 716–718.

Charcot J, Marie P. Sur une forme particulaire dàtrophie musculaire progressive souvent familial debutant par les pieds et les jamber et atteingnant plus tard les mains. Revue de Medicine1886; 6: 97-138.

Tooth H. The pereneal type of progressive muscular atrophy. London.1886. Lewis.

Saporta A, Sotile SL, Miller LJ, et al. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Annals of Neurology.69(1): 22-33.




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

Refbacks

  • There are currently no refbacks.


Copyright (c) 2018 Stefan Bittmann

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.