Demyelinating peripheral neuropathy caused by the p.R160H mutation in the LITAF gene

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 reveal...

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Bibliographic Details
Published in:Journal of community hospital internal medicine perspectives 2023-06, Vol.13 (4), p.45-48
Main Authors: Peddareddygari, Leema Reddy, Grewal, Raji P.
Format: Article
Language:English
Subjects:
Case Report
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Summary: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.
ISSN:2000-9666
2000-9666
DOI:10.55729/2000-9666.1203