Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case

Abstract

Background. Pathogenic variants of the CREBBP gene have been revealed in patients with Rubinstein–Taybi and Menke–Hennekam syndromes, however, the toe walking symptom was not mentioned in these pathologies.Clinical Case Description. The pathogenic nucleotide variant c.5600G>A in heterozygous state in the CREBBP gene was revealed in our 9-year-old female patient with refractory toe walking and developmental speech delay. There were no abnormalities typical for Rubinstein–Taybi syndrome, but there were several signs of Menke–Hennekam syndrome.Conclusion. The genetic anomaly associated with toe walking is described. This observation allows us to critically relate to the hypothesis about the idiopathic genesis of this form of gait disorder at the absence of obvious neurological or orthopedic causes of its development.

NGS-Panel Diagnosis Developed for the Differential Diagnosis of Idiopathic Toe Walking and Its Application for the Investigation of Possible Genetic Causes for the Gait Anomaly

“…By using the NGS-panel, prior to this study, we were able to identify an undetected spinocerebellar ataxia 13 in a boy and a Menke-Hennekam syndrome in a girl. 30 31 Following both diagnoses, the gait anomaly could be treated alongside a recommendation for treatment of the conditions and a clearer prognosis for the children's future development. In this way, the further genetic testing could be used for the generation of knowledge and as a novel method to detect progressive genetic conditions, with the potential for more research to generate further insights.…”