Complete COL1A1 allele deletions in osteogenesis imperfecta.
Genet Med
; 12(11): 736-41, 2010 Nov.
Article
em En
| MEDLINE
| ID: mdl-21113976
ABSTRACT
PURPOSE:
To identify a molecular genetic cause in patients with a clinical diagnosis of osteogenesis imperfecta (OI) type I/IV.METHODS:
The authors performed multiplex ligation-dependent probe amplification analysis of the COL1A1 gene in a group of 106 index patients.RESULTS:
In four families with mild osteogenesis imperfecta and no other phenotypic abnormalities, a deletion of the complete COL1A1 gene on one allele was detected, a molecular finding that to our knowledge has not been described before, apart from a larger chromosomal deletion detected by fluorescent in situ hybridization encompassing the COL1A1 gene in a patient with mild osteogenesis imperfecta and other phenotypic abnormalities. Microarray analysis in three of the four families showed that it did not concern a founder mutation.CONCLUSION:
The clinical picture of complete COL1A1 allele deletions is a comparatively mild type of osteogenesis imperfecta. As such, multiplex ligation-dependent probe amplification analysis of the COL1A1 gene is a useful additional approach to defining the mutation in cases of suspected osteogenesis imperfecta type I with no detectable mutation.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteogênese Imperfeita
/
Deleção de Genes
/
Colágeno Tipo I
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Child
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article