Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case
https://doi.org/10.15690/vsp.v20i4.2287
Abstract
Baclground. 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.
About the Authors
David Pomarino
Praxis Pomarino
Germany
Disclosure of interest:
Germany
Hamburg
Disclosure of interest:
employee of Praxis Pomarino company (Hamburg, Germany) that is working on diagnosis and management of children with idiopathic toe walking
Anneke Thren
Praxis Pomarino
Germany
Disclosure of interest:
Germany
Hamburg
Disclosure of interest:
employee of Praxis Pomarino company (Hamburg, Germany) that is working on diagnosis and management of children with idiopathic toe walking
Johanna R. Thren
Praxis Pomarino
Germany
Disclosure of interest:
Germany
Hamburg
Disclosure of interest:
employee of Praxis Pomarino company (Hamburg, Germany) that is working on diagnosis and management of children with idiopathic toe walking
Kevin Rostasy
Center for Pediatric Neurology and Social Pediatrics
Germany
Disclosure of interest:
Germany
Datteln
Disclosure of interest:
Kevin Rostasy confirmed the absence of a reportable conflict of interests
Anna A. Emelina
Praxis Pomarino
Germany
Disclosure of interest:
Germany
Hamburg
Disclosure of interest:
employee of Praxis Pomarino company (Hamburg, Germany) that is working on diagnosis and management of children with idiopathic toe walking
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Review
For citations:
Pomarino D., Thren A., Thren J.R., Rostasy K., Emelina A.A. Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case. Current Pediatrics. 2021;20(4):310-315. (In Russ.) https://doi.org/10.15690/vsp.v20i4.2287
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