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

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 st...

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Published inVoprosy sovremennoĭ pediatrii Vol. 20; no. 4; pp. 310 - 315
Main Authors Pomarino, David, Thren, Anneke, Thren, Johanna R., Rostasy, Kevin, Emelina, Anna A.
Format Journal Article
LanguageEnglish
Published "Paediatrician" Publishers LLC 24.10.2021
Subjects
ген crebbp
мутация
наследственность
ходьба на носках
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Summary: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.
ISSN:1682-5527
1682-5535
DOI:10.15690/vsp.v20i4.2287