Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population.
Birth Defects Res A Clin Mol Teratol
; 100(8): 633-41, 2014 Aug.
Article
em En
| MEDLINE
| ID: mdl-24838524
ABSTRACT
Neural Tube Defects (NTDs) are congenital malformations that involve failure of the neural tube closure during the early phases of development at any level of the rostro-caudal axis. The planar cell polarity (PCP) pathway is a highly conserved, noncanonical Wnt-Frizzled-Dishevelled signaling cascade, that was first identified in the fruit fly Drosophila. We are here reviewing the role of the PCP pathway genes in the etiology of human NTDs, updating the list of the rare and deleterious mutations identified so far. We report 50 rare nonsynonymous mutations of PCP genes in 54 patients having a pathogenic effect on the protein function. Thirteen mutations that have previously been reported as novel are now reported in public databases, although at very low frequencies. The mutations were private, mostly missense, and transmitted by a healthy parent. To date, no clear genotype-phenotype correlation has been possible to create. Even if PCP pathway genes are involved in the pathogenesis of neural tube defects, future studies will be necessary to better dissect the genetic causes underlying these complex malformations.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Polaridade Celular
/
Tubo Neural
/
Via de Sinalização Wnt
/
Defeitos do Tubo Neural
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Birth Defects Res A Clin Mol Teratol
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Itália