Severe retinopathy of prematurity associated with FZD4 mutations.
Ophthalmic Genet
; 31(1): 37-43, 2010 Mar.
Article
en En
| MEDLINE
| ID: mdl-20141357
ABSTRACT
PURPOSE:
To determine whether mutations in the FZD4 gene are a risk factor for developing severe ROP.METHODS:
Three Canadian tertiary care centers recruited premature infants prospectively and retrospectively, and assigned affectation status based on the maximum degree of severity of ROP recorded in both eyes. Mutation screening of the FZD4 gene was performed using direct sequencing. All sequence changes were evaluated for functional significance.RESULTS:
Two novel FZD4 mutations (Ala370Gly or Lys203Asn) were identified in two infants from the severe ROP group (n=71). No mutation was detected in the mild to no ROP group (n=33), and the two novel mutations were absent in 173 random Caucasian samples. Mutation Ala370Gly was also found in one sibling and one parent of the affected infant, but no signs of familial exudative vitreoretinopathy (FEVR), a condition with phenotypic overlap with ROP known to be caused by FZD4 mutations, were present in either family member.CONCLUSIONS:
Mutations in the FZD4 gene in this group of premature infants supports a role for the FZD4 pathway in the development of severe ROP and accounts for approximately 3% of severe ROP in Caucasian premature infants.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Retinopatía de la Prematuridad
/
Receptores Acoplados a Proteínas G
/
Receptores Frizzled
/
Mutación
Tipo de estudio:
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Animals
/
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Ophthalmic Genet
Asunto de la revista:
GENETICA MEDICA
/
OFTALMOLOGIA
Año:
2010
Tipo del documento:
Article
País de afiliación:
Canadá