GENE FOR AUTOSOMAL-DOMINANT CONGENITAL STATIONARY NIGHT BLINDNESS MAPS TO THE SAME REGION AS THE GENE FOR THE BETA-SUBUNIT OF THE ROD PHOTORECEPTOR CGMP PHOSPHODIESTERASE (PDEB) IN CHROMOSOME 4P16.3
A. Gal et al., GENE FOR AUTOSOMAL-DOMINANT CONGENITAL STATIONARY NIGHT BLINDNESS MAPS TO THE SAME REGION AS THE GENE FOR THE BETA-SUBUNIT OF THE ROD PHOTORECEPTOR CGMP PHOSPHODIESTERASE (PDEB) IN CHROMOSOME 4P16.3, Human molecular genetics, 3(2), 1994, pp. 323-325
We studied a large multigeneration Danish family with autosomal domina
nt congenital stationary night blindness. Both electrophysiological an
d psychophysical findings in affected family members were identical to
those reported in patients from the 'Nougaret family'. The disease lo
cus in the Danish family has now been mapped by demonstrating close li
nkage without recombination (Q = 0.00 at z(max) = 14.4) to the locus f
or alpha-L-iduronidase assigned to chromosome 4p16.3. Interestingly th
e gene for the beta-subunit of the rod photoreceptor cGMP-specific pho
sphodiesterase maps to the very same chromosomal region.