Demyelinating Peripheral Neuropathy Caused by the p.R160H Mutation in the LITAF Gene.
J Community Hosp Intern Med Perspect
; 13(4): 45-48, 2023.
Article
em En
| MEDLINE
| ID: mdl-37868241
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, chr1611643500C > 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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
J Community Hosp Intern Med Perspect
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Estados Unidos