Association between a new 3q; 5q chromosomal translocation and dystrophy of human retinal pigment epithelium
Genet. mol. res. (Online)
; 6(4): 1085-1090, 2007. ilus
Article
en En
| LILACS
| ID: lil-520041
Biblioteca responsable:
BR26.1
ABSTRACT
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degeneration. This group of disorders essentially leads to blindness due to mutations in different genes. The genetic basis affected by sporadic and inherited autosomal dominant, autosomal recessive or X-linked mutations is complex. In humans, RP is in most cases associated with missense mutations in the rhodopsin gene (RHO). RHO plays an important role in phototransduction pathways. So far, few studies have described associations between chromosomal alterations and RP. In this study, we present a case report of a premature, 32-week-old male baby who suffered from retinopathy, facial dysmorphisms and other disorders. His chromosomes were analyzed by conventional and high-resolution chromosomal techniques. This analysis revealed structural aberrations on chromosomes 3 and 5 with an apparently balanced chromosomal translocation with karyotype 46,XY,t(3;5)(q25;q11.2). Remarkably, the 3q breakpoint on the long arm of chromosome 3 is located close to the physical RHO chromosomal gene location. In this study, we describe presumably for the first time a possible association between a 3q;5q chromosomal alteration and RP. We conclude that the new detected chromosomal translocation may lead either to loss or inactivation of the intragenic RHO gene or its respective gene regulatory region. As a consequence, the chromosomal aberration may be responsible for retinitis pigmentosa.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
LILACS
Asunto principal:
Degeneración Retiniana
/
Translocación Genética
/
Recien Nacido Prematuro
Tipo de estudio:
Risk_factors_studies
Límite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Genet. mol. res. (Online)
Asunto de la revista:
BIOLOGIA MOLECULAR
/
GENETICA
Año:
2007
Tipo del documento:
Article
País de afiliación:
Brasil