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A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan
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EDITOR
Leber congenital amaurosis (LCA)
(MIM 204000) has the earliest onset and is the most severe form of
retinal dystrophy.1-3 It is an autosomal recessive
condition that is recognised within the first few months of life
because of impaired vision and an extinguished
electroretinogram.4 Nystagmus, specifically pendular, and
eye poking are frequently observed early on,5 while
hypermetropia and keratoconus may develop later during the course of
the disease.6 7 Genetic heterogeneity was confirmed when
the first gene of LCA was mapped to chromosome 17p13.1
(LCA1) by homozygosity mapping in
consanguineous Arab families.8 9 Four different mutations in the retinal specific guanylate cyclase gene
(RETGC) were found in four unrelated
probands and thus LCA1 was assumed to result from homozygous alterations in this gene.10
We report here a nonsense mutation in the
RETGC gene, which in the homozygous state is
responsible for LCA in a large inbred tribe
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[Abstract] [Full Text]
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