A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation.
Ophthalmic Genet
; 20(1): 37-43, 1999 Mar.
Article
en En
| MEDLINE
| ID: mdl-10415464
X-linked retinoschisis (XLRS) is a vitreoretinal disease responsible for most cases of juvenile macular degeneration in males. Retinoschisis carrier females generally manifest no pathological symptoms. However, a large affected family from Colombia presented three affected females with typical RS phenotype similar to their 27 affected male relatives. Fundus examination as well as electroretinograms (ERG) indicate that the disease in these three affected females is as severe as in their affected male counterparts. DNA sequence analysis of the XLRS1 gene in the affected members of this family indicates a single base (G) deletion at the 639 base position (639delG). This deletion causes a frameshift during translation and results in a larger (235 amino acids) than normal peptide (224 amino acids) with grossly altered discoidin domain, which is considered critical for the cellular function of the protein. The co-segregation of this gene mutation with the RS phenotype and the RS carrier status as well as its complete absence in normal controls indicates that this genetic change is responsible for the RS pathology in this family. This (639delG) is a novel RS mutation and reported here for the first time. Furthermore, the analysis of the three affected females indicates that the RS pathology in affected females (a very rare occurrence) is due to XLRS1 mutations carried on both of their X chromosomes.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades de la Retina
/
Cuerpo Vítreo
/
Cromosoma X
/
Oftalmopatías
/
Proteínas del Ojo
/
Ligamiento Genético
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
Límite:
Adolescent
/
Adult
/
Aged
/
Aged80
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
/
Middle aged
País/Región como asunto:
America do sul
/
Colombia
Idioma:
En
Revista:
Ophthalmic Genet
Asunto de la revista:
GENETICA MEDICA
/
OFTALMOLOGIA
Año:
1999
Tipo del documento:
Article
País de afiliación:
Colombia
Pais de publicación:
Reino Unido