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Case
Report
Association between a new 3q;5q chromosomal
translocation and dystrophy of human retinal
pigment epithelium
S.R.F. Pereira, A.S. Silva, E.P. Bormann and
O. Kuppinger
Laboratório de Genética e Biologia
Molecular, Departamento de Biologia,
Universidade Federal do Maranhão, São Luís,
MA, Brasil
Corresponding author: S.R.F. Pereira
E-mail: silmaregina@yahoo.com.br
Genet. Mol. Res. 6 (4): 1085-1090 (2007)
Received August 27, 2007
Accepted November 9, 2007
Published December 4, 2007
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.
Key words: Retinal dystrophy, Retinitis
pigmentosa, Chromosomal translocation 3q;5q
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