Cardio / 中南大学学报(医学版)
Journal of Central South University(Medical Sciences)
;
(12): 432-437, 2021.
Artigo
em Inglês
| WPRIM
| ID: wpr-880678
ABSTRACT
Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. The main characteristics of the patients are craniofacial deformities, cardiac malformations, skin abnormalities, delay of language and motor development, gastrointestinal dysfunction, intellectual disability, and epilepsy. In this case, the child has a typical CFC syndrome face and developmental delay. The gene results of the second-generation sequencing technology showed that there was a mutation site c.1741A>G (p. Asn581Asp) (heterozygous) in exon 14 of the BRAF (NM_004333.5) gene. The mutation was not observed in the child's parents. The above-mentioned mutation may be a de novo mutation. There is no effective therapy for this disease so far.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Anormalidades Múltiplas
/
Displasia Ectodérmica
/
Fácies
/
Proteínas Proto-Oncogênicas B-raf
/
Insuficiência de Crescimento
/
Cardiopatias Congênitas
/
Mutação
Limite:
Criança
/
Humanos
Idioma:
Inglês
Revista:
Journal of Central South University(Medical Sciences)
Ano de publicação:
2021
Tipo de documento:
Artigo
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