A 16-year-old patient with Charcot Marie Tooth disease in variant c.217G>C of the INF2 gene and focal glomerulosclerosis – a case report

Authors

  • Maria Przygoda Clinical Genetics Scientific Club at the Medical College of Rzeszow University, Rzeszow, Poland https://orcid.org/0000-0002-6409-7265
  • Dawid Matias Clinical Genetics Scientific Club at the Medical College of Rzeszow University, Rzeszow, Poland
  • Maciej Jurczak Clinical Genetics Scientific Club at the Medical College of Rzeszow University, Rzeszow, Poland
  • Aldona Sokołowska Clinical Genetics Scientific Club at the Medical College of Rzeszow University, Rzeszow, Poland https://orcid.org/0009-0006-8723-2593
  • Karolina Raba Clinical Genetics Scientific Club at the Medical College of Rzeszow University, Rzeszow, Poland
  • Juliusz Wołkanowski Clinical Genetics Scientific Club at the Medical College of Rzeszow University, Rzeszow, Poland
  • Małgorzata Rydzanicz Department of Medical Genetics, Biostructure Center, Faculty of Medicine, Medical University of Warsaw, Poland
  • Joanna Kosińska Department of Medical Genetics, Biostructure Center, Faculty of Medicine, Medical University of Warsaw, Poland
  • Rafał Płoski Department of Medical Genetics, Biostructure Center, Faculty of Medicine, Medical University of Warsaw, Poland
  • David Aebisher Department of Photomedicine and Physical Chemistry, Medical College of Rzeszow University, Rzeszow, Poland https://orcid.org/0000-0002-2661-6570
  • Antoni Pyrkosz Department of Medical Genetics, Medical College of Rzeszow University, Rzeszow, Poland https://orcid.org/0000-0001-5400-8073

DOI:

https://doi.org/10.15584/ejcem.2021.4.10

Keywords:

exome sequencing, neuropathy, nephropathy

Abstract

Introduction. Charcot Marie Tooth disease (CMT) is currently one of the most commonly diagnosed and commonly hereditary sensorimotor neuropathies. Concluding from the literature, this is the first study describing the case of a patient with CMT disease in the c.217G> C variant of the INF2 gene and focal segmental glomerulosclerosis.

Aim. To present a case of a 16-year-old patient suffering from CMT disease in variant c.217G> C of the INF2 gene and focal glomerulosclerosis.

Description of the case. The text describes the CMT disease in a patient who underwent the WES/WGS-NGS genetic test and found a mutation within the INF2 gene at the chromosomal position hg38 14: 104701582-G> C, cDNA level c.217 G> C , notation at the p protein level (Gly73Arg). Genotype record according to Human Genome Variation Society: NM_022489.4: c. [217G> C]; [217 =]. The publication includes data on genetics, molecular mechanisms of the disease, diagnostic methods, rehabilitation and surgical treatment.

Conclusion. CMT disease is a heterogeneous group of diseases caused by mutations in various genes. The incidence of this pathology has increased significantly in the last century. Currently, there are no treatments available to combat this disease, and symptomatic treatment is the only treatment available.

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Published

2021-12-30

How to Cite

Przygoda, M., Matias, D., Jurczak, M., Sokołowska, A., Raba, K., Wołkanowski, J., Rydzanicz, M., Kosińska, J., Płoski, R., Aebisher, D., & Pyrkosz, A. (2021). A 16-year-old patient with Charcot Marie Tooth disease in variant c.217G>C of the INF2 gene and focal glomerulosclerosis – a case report. European Journal of Clinical and Experimental Medicine, 19(4), 341–346. https://doi.org/10.15584/ejcem.2021.4.10

Issue

Vol. 19 No. 4 (2021)

Section

CASUISTIC PAPERS

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