Genetic Factors Associated with Toe Walking in Children

David Pomarino,Johanna R Thren,Stefaine Morigeau,Anna A Emelina,Anneke Thren

doi:10.15690/vsp.v19i2.2108

Abstract

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.

Highlights

ЭТИОЛОГИЯ ХОДЬБЫ НА НОСКАХ Этиология ходьбы на носках — по-прежнему дискуссионный вопрос
The article describes genetic factors associated with toe walking in children
Genetic testing of patients with toe walking is crucial for accurate diagnostics of this pathology as well as clinical examination

Summary

Introduction

ЭТИОЛОГИЯ ХОДЬБЫ НА НОСКАХ Этиология ходьбы на носках — по-прежнему дискуссионный вопрос. Описана ассоциация патологической походки с вариантами генов 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).

Results

Conclusion