vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v19i2.2108vsp-2381Research ArticleОБМЕН ОПЫТОМEXCHANGE OF EXPERIENCEГенетические факторы, ассоциированные с ходьбой на носках у детейGenetic Factors Associated with Toe Walking in Childrenhttps://orcid.org/0000-0002-2592-9348ПомариноД.PomarinoDavid

Гамбург.

Hamburg.

ТренА.ThrenAnneke

Гамбург.

Hamburg.

МоригоС.MorigeauStefaine

Гамбург.

Hamburg.

https://orcid.org/0000-0001-6049-3511ТренДж. Р.ThrenJohanna R.

Гамбург.

Hamburg.

https://orcid.org/0000-0003-0108-486XЕмелинаА. А.EmelinaAnna A.

Емелина Анна Александровна - кандидат медицинских наук, ассистент кафедры детских болезней СамГМУ.

443099, Самара, ул. Чапаевская, д. 89.

тел.: +7 (846) 959-45-11

flo@inbox.ruPraxis PomarinoГерманияPraxis PomarinoGermanyСамарский государственный медицинский университетРоссияSamara State Medical UniversityRussian Federation202021062020192146149Copyright © Помарино Д., Трен А., Мориго С., Трен Д.Р., Емелина А.А., 20202020Помарино Д., Трен А., Мориго С., Трен Д.Р., Емелина А.А.Pomarino D., Thren A., Morigeau S., Thren J.R., Emelina A.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/2381

В статье представлено описание генетических факторов, ассоциированных с ходьбой на носках у детей. Описанаассоциацияпатологическойпоходкисвариантамигенов PMP22 (peripheral myelin protein 22), EGR2 (early growth response protein 2), AIFM1 (apoptosis inducing factor mitochondria associated 1), MORC2 (member of the Microrchidia family CW-type zinc finger 2), DHTKD1 (dehydrogenase E1 and transketolase domain containing 1), GDAP1 (ganglioside induced differentiation associated protein 1), KIF1B (kinesin family member 1B), FGD4 (FYVE, RhoGEF and PH domain containing 4), SBF2 (SET binding factor 2), SH3TC2 (SH3 domain and tetratricopeptide repeats 2), NAGLU (N-acetyl-alpha-glucosaminidase), NEFL (neurofilament light) и PRX (periaxin). Генетическое тестирование пациентов с ходьбой на носках в дополнение к клиническому обследованию необходимо для более точной диагностики патологии.

The article describes genetic factors associated with toe walking in children. Association of gait abnormality with variants in genes listed below is shown: PMP22 (peripheral myelin protein 22), EGR2 (early growth response protein 2), AIFM1 (apoptosis inducing factor mitochondria associated 1), MORC2 (member of the Microrchidia family CW-type zinc finger 2), DHTKD1 (dehydrogenase E1 and transketolase domain containing 1), GDAP1 (ganglioside induced differentiation associated protein 1), KIF1B (kinesin family member 1B), FGD4 (FYVE, RhoGEF and PH domain containing 4), SBF2 (SET binding factor 2), SH3TC2 (SH3 domain and tetratricopeptide repeats 2), NAGLU (N-acetyl-alpha-glucosaminidase), NEFL (neurofilament light) и PRX (periaxin). Genetic testing of patients with toe walking is crucial for accurate diagnostics of this pathology as well as clinical examination.

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The authors declare that there are no conflicts of interest present.