[Research progress of genetic research on Char syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(6): 758-760, 2024 Jun 10.
Article
em Zh
| MEDLINE
| ID: mdl-38818565
ABSTRACT
Char syndrome is a rare autosomal dominant genetic disorder characterized by patent ductus arteriosus, facial dysmorphism, and dysplasia of fingers/toes. It may also be associated with multiple papillae, dental dysplasia, and sleep disorders. TFAP2B has proven to be a pathogenic gene for neural crest derivation and development, and several variants of this gene have been identified. Bone morphogenetic protein signaling plays an important role in embryonic development by participating in limb growth and patterning, and regulation of neural crest cell development. TFAP2B is an upstream regulatory gene for bone morphogenetic proteins 2 and 4. Variants of the TFAP2B gene may lead to abnormal proliferation of neural crest cells by affecting the expression of bone morphogenetic proteins, resulting in multiple organ dysplasia syndrome. In addition, TFAP2B variants may only lead to patent ductus arteriosus instead of typical Char syndrome.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Permeabilidade do Canal Arterial
Limite:
Humans
Idioma:
Zh
Ano de publicação:
2024
Tipo de documento:
Article