Demyelinating Peripheral Neuropathy Caused by the p.R160H Mutation in the LITAF Gene

Leema Reddy Peddareddygari; Raji P Grewal

doi:10.55729/2000-9666.1203

Demyelinating Peripheral Neuropathy Caused by the p.R160H Mutation in the LITAF Gene

J Community Hosp Intern Med Perspect. 2023 Jun 29;13(4):45-48. doi: 10.55729/2000-9666.1203. eCollection 2023.

Authors

Leema Reddy Peddareddygari¹, Raji P Grewal^{1

2}

Affiliations

¹ Dynamic Biologics Inc., 1 Deer Park Drive, Monmouth Junction, NJ, USA.
² Neuroscience Institute, Saint Francis Medical Center, 601 Hamilton Avenue, Trenton, NJ, USA.

Abstract

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.

Keywords: Autosomal dominant genetic neuropathy; CMT1C; LITAF gene; Mild demyelinating neuropathy.

Publication types

Case Reports

Grants and funding

This research was funded by Neurogenetics Foundation, grant number NGF-2022-2.