Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variants.
Ophthalmic Res
; 45(3): 155-63, 2011.
Article
em En
| MEDLINE
| ID: mdl-20861657
ABSTRACT
Choroideremia is an X-linked, progressive photoreceptor degeneration disorder due to mutations in CHM. In addition to an atrophy of the outer retina, affected individuals present with a characteristic atrophy of the choroid. To search for a canine model, we screened the CHM gene of 37 dogs (22 breeds) with various forms of retinal dystrophies. We found 21 variations in 13 breeds (17 detected in only one breed and 4 shared by two or more) with 43% segregating in the same pedigree, a Great Dane female and a female offspring. Of particular interest were an exonic missense variation and a 3-bp intronic deletion near a splice acceptor site. However, although not detected in unrelated healthy Great Danes, these variants were nonpathogenic since they did not segregate with the disease phenotype in the pedigree. These results suggest that a CHM dog model may not be viable, as is the case for mouse and zebrafish.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Coroideremia
/
Proteínas rab de Ligação ao GTP
/
Modelos Animais de Doenças
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Animals
Idioma:
En
Revista:
Ophthalmic Res
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
França