We report a 62-year-old woman who presented with complaints of numbness and tingling in her feet without a family history suggestive of neuropathy. Neurological examination and electromyogram testing confirmed the presence of a demyelinating neuropathy with a mild phenotype. Extensive testing revealed no etiology and she was diagnosed and treated unsuccessfully for chronic inflammatory demyelinating polyneuropathy. Ultimately, with the availability of next-generation sequencing, genetic testing revealed a heterozygous variant, chr16:11643500C>T , c.479 G>A, p.R160H, in the lipopolysaccharide-induced tumor necrosis factor (LITAF) gene. Further analysis of this variant employing protein modeling suggests that this is a disease producing mutation causing Charcot Marie Tooth disease type 1C (CMT1C). Our study demonstrates the power of next-generation sequencing to diagnose patients with idiopathic neuropathy. This is important as it avoids unnecessary and expensive treatments for the patient and furthermore, allows genetic counseling for family members.
Peddareddygari, Leema Reddy and Grewal, Raji P.
"Demyelinating peripheral neuropathy caused by the p.R160H mutation in the LITAF gene,"
Journal of Community Hospital Internal Medicine Perspectives: Vol. 13:
4, Article 10.
Available at: https://scholarlycommons.gbmc.org/jchimp/vol13/iss4/10