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...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
"Paediatrician" Publishers LLC
2021-10-01
|
| Series: | Вопросы современной педиатрии |
| Subjects: | |
| Online Access: | https://vsp.spr-journal.ru/jour/article/view/2700 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849242212628430848 |
|---|---|
| author | David Pomarino Anneke Thren Johanna R. Thren Kevin Rostasy Anna A. Emelina |
| author_facet | David Pomarino Anneke Thren Johanna R. Thren Kevin Rostasy Anna A. Emelina |
| author_sort | David Pomarino |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-6a7bc41e4a3347faa592899e871eb423 |
| institution | Kabale University |
| issn | 1682-5527 1682-5535 |
| language | English |
| publishDate | 2021-10-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj-art-6a7bc41e4a3347faa592899e871eb4232025-08-20T03:59:53Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352021-10-0120431031510.15690/vsp.v20i4.22871964Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical CaseDavid Pomarino0Anneke Thren1Johanna R. Thren2Kevin Rostasy3Anna A. Emelina4Praxis PomarinoPraxis PomarinoPraxis PomarinoCenter for Pediatric Neurology and Social PediatricsPraxis PomarinoBaclground. 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.https://vsp.spr-journal.ru/jour/article/view/2700toe walkingmutationcrebbp geneheredity |
| spellingShingle | David Pomarino Anneke Thren Johanna R. Thren Kevin Rostasy Anna A. Emelina Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case Вопросы современной педиатрии toe walking mutation crebbp gene heredity |
| title | Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case |
| title_full | Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case |
| title_fullStr | Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case |
| title_full_unstemmed | Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case |
| title_short | Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case |
| title_sort | mutation in the crebbp gene in the girl with toe walking syndrome clinical case |
| topic | toe walking mutation crebbp gene heredity |
| url | https://vsp.spr-journal.ru/jour/article/view/2700 |
| work_keys_str_mv | AT davidpomarino mutationinthecrebbpgeneinthegirlwithtoewalkingsyndromeclinicalcase AT annekethren mutationinthecrebbpgeneinthegirlwithtoewalkingsyndromeclinicalcase AT johannarthren mutationinthecrebbpgeneinthegirlwithtoewalkingsyndromeclinicalcase AT kevinrostasy mutationinthecrebbpgeneinthegirlwithtoewalkingsyndromeclinicalcase AT annaaemelina mutationinthecrebbpgeneinthegirlwithtoewalkingsyndromeclinicalcase |