Abstract
The locus for autosomal dominant congenital stationary night blindness (adCSNB) has recently been assigned to distal chromosome 4p by linkage analysis in a large Danish family. Within the candidate gene encoding the β–subunit of rod photoreceptor cGMP–specific phosphodiesterase (βPDE), we have identified a heterozygous C to A transversion in exon 4, predicting a His258Asp change in the polypeptide. We found a perfect cosegregation (Zmax=22.6 at θ=0.00) of this mutation with the disease phenotype suggesting that this missense mutation is responsible for the disease in this pedigree. Homozygous nonsense mutations in the βPDE gene have been found recently in patients with autosomal recessive retinitis pigmentosa, a common hereditary photoreceptor dystrophy.
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Gal, A., Orth, U., Baehr, W. et al. Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness. Nat Genet 7, 64–68 (1994). https://doi.org/10.1038/ng0594-64
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DOI: https://doi.org/10.1038/ng0594-64
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