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Case Reports
. 2023 Jun 29;13(4):45-48.
doi: 10.55729/2000-9666.1203. eCollection 2023.

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

Leema Reddy Peddareddygari  1 , Raji P Grewal  1   2
Affiliations
Case Reports

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

Leema Reddy Peddareddygari et al. J Community Hosp Intern Med Perspect. .

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.

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Conflict of interest statement

Conflicts of interest The authors have no conflict of interest to report.

References

    1. Street VA, Bennett CL, Goldy JD, et al. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology. 2003 Jan 14;60(1):22–26. doi: 10.1212/wnl.60.1.22. - DOI - PubMed
    1. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4(7):1073–1081. https://doi.org/10.1038/nprot.2009.86. Available from: http://sift.jcvi.org. - DOI - PubMed
    1. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010 Apr;7(4):248–249. https://doi.org/10.1038/nmeth0410-248. Available from: http://genetics.bwh.harvard.edu/pph2. - DOI - PMC - PubMed
    1. Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014 Apr;11(4):361–362. https://doi.org/10.1038/nmeth.2890. Available from: http://www.mutationtaster.org/ - DOI - PubMed
    1. Richards S, Aziz N, Bale S, et al. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 2015 May;17(5):405–424. doi: 10.1038/gim.2015.30. . Epub 2015 Mar 5. - DOI - PMC - PubMed

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