Molecular Analyses in a Rabbit Model of Craniosynostosis: Likely Exclusion of Known Candidate Genes as the Loci of Origin.
Cleft Palate Craniofac J
; 56(6): 786-790, 2019 07.
Article
em En
| MEDLINE
| ID: mdl-30370787
ABSTRACT
OBJECTIVE:
Craniosynostosis (CS) involves the premature fusion of one or more cranial sutures. We work with a naturally occurring rabbit model of CS with an undefined etiology. Known causes of coronal CS were evaluated to identify potential associations with CS in the rabbit.DESIGN:
Candidate genes were sequenced in control New Zealand White (NZW) rabbits (n = 4) and synostotic NZW rabbits (n = 4). Variants were identified by alignment using Clustal Omega. OUTCOMEMEASURES:
Single nucleotide variants (SNVs) were classified according to phenotypic associations and predicted impact on protein structure. Human correlates were identified in the database of single nucleotide polymorphisms (dbSNP).RESULTS:
A total of 21 SNVs were identified in the 10 genes examined. Variant classification and inheritance patterns are inconsistent with causality.CONCLUSIONS:
The genetic basis for disease in the CS rabbit likely involves novel loci and is not associated with known causes of coronal synostosis.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Craniossinostoses
Tipo de estudo:
Prognostic_studies
Limite:
Animals
Idioma:
En
Revista:
Cleft Palate Craniofac J
Ano de publicação:
2019
Tipo de documento:
Article