Idiopathic toe walking and heterozygous mutation in the NDGR1 gene: 2 clinical cases
This article describes two clinical cases of patients with tiptoe walking. As part of the diagnosis, both patients underwent a genetic test for hereditary sensorimotor neuropathy, which revealed in one patient a mutation in the NDRG1 gene with a rare variant c.1022G> A; p.arg341his (minor all...
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| Format: | Article |
| Language: | Russian |
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Open Systems Publication
2021-07-01
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| Series: | Лечащий Врач |
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| Online Access: | https://journal.lvrach.ru/jour/article/view/758 |
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| author | D. Pomarino J. R. Tren A. A. Emelina |
| author_facet | D. Pomarino J. R. Tren A. A. Emelina |
| author_sort | D. Pomarino |
| collection | DOAJ |
| description | This article describes two clinical cases of patients with tiptoe walking. As part of the diagnosis, both patients underwent a genetic test for hereditary sensorimotor neuropathy, which revealed in one patient a mutation in the NDRG1 gene with a rare variant c.1022G> A; p.arg341his (minor allele frequency < 0.01%), in the other patient a heterogeneous variant c.1053_1082del and NM_001135242.1 p.thr360_ gly369del was detected. These mutations are associated with Charcot–Marie–Toute disease (type 4D), but none of the patients were clinically diagnosed with this hereditary neuropathy, while the diagnosis of idiopathic toe-walking is also doubtful, since in both cases quite serious treatment was required. Therefore, it is reasonable to assume that both patients walk on tiptoe for a genetic reason. |
| format | Article |
| id | doaj-art-5073880e83494c20b3b7f10f9b2b3498 |
| institution | Matheson Library |
| issn | 1560-5175 2687-1181 |
| language | Russian |
| publishDate | 2021-07-01 |
| publisher | Open Systems Publication |
| record_format | Article |
| series | Лечащий Врач |
| spelling | doaj-art-5073880e83494c20b3b7f10f9b2b34982025-08-03T13:02:53ZrusOpen Systems PublicationЛечащий Врач1560-51752687-11812021-07-01067810.51793/OS.2021.24.6.001757Idiopathic toe walking and heterozygous mutation in the NDGR1 gene: 2 clinical casesD. Pomarino0J. R. Tren1A. A. Emelina2Praxis PomarinoPraxis PomarinoPraxis PomarinoThis article describes two clinical cases of patients with tiptoe walking. As part of the diagnosis, both patients underwent a genetic test for hereditary sensorimotor neuropathy, which revealed in one patient a mutation in the NDRG1 gene with a rare variant c.1022G> A; p.arg341his (minor allele frequency < 0.01%), in the other patient a heterogeneous variant c.1053_1082del and NM_001135242.1 p.thr360_ gly369del was detected. These mutations are associated with Charcot–Marie–Toute disease (type 4D), but none of the patients were clinically diagnosed with this hereditary neuropathy, while the diagnosis of idiopathic toe-walking is also doubtful, since in both cases quite serious treatment was required. Therefore, it is reasonable to assume that both patients walk on tiptoe for a genetic reason.https://journal.lvrach.ru/jour/article/view/758idiopathic toe walkingcharcot–marie–toute diseasemutationndrg1 gene |
| spellingShingle | D. Pomarino J. R. Tren A. A. Emelina Idiopathic toe walking and heterozygous mutation in the NDGR1 gene: 2 clinical cases Лечащий Врач idiopathic toe walking charcot–marie–toute disease mutation ndrg1 gene |
| title | Idiopathic toe walking and heterozygous mutation in the NDGR1 gene: 2 clinical cases |
| title_full | Idiopathic toe walking and heterozygous mutation in the NDGR1 gene: 2 clinical cases |
| title_fullStr | Idiopathic toe walking and heterozygous mutation in the NDGR1 gene: 2 clinical cases |
| title_full_unstemmed | Idiopathic toe walking and heterozygous mutation in the NDGR1 gene: 2 clinical cases |
| title_short | Idiopathic toe walking and heterozygous mutation in the NDGR1 gene: 2 clinical cases |
| title_sort | idiopathic toe walking and heterozygous mutation in the ndgr1 gene 2 clinical cases |
| topic | idiopathic toe walking charcot–marie–toute disease mutation ndrg1 gene |
| url | https://journal.lvrach.ru/jour/article/view/758 |
| work_keys_str_mv | AT dpomarino idiopathictoewalkingandheterozygousmutationinthendgr1gene2clinicalcases AT jrtren idiopathictoewalkingandheterozygousmutationinthendgr1gene2clinicalcases AT aaemelina idiopathictoewalkingandheterozygousmutationinthendgr1gene2clinicalcases |