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.
We studied a large multigeneration Danish family with autosomal dominant congenital stationary night blindness. Both electrophysiological and psychophysical findings in affected family members were identical to those reported in patients from the 'Nougaret family'. The disease locus in the Danish family has now been mapped by demonstrating close linkage without recombination (Q = 0.00 at Zmax = 14.4) to the locus for alpha-L-iduronidase assigned to chromosome 4p16.3. Interestingly the gene for the beta-subunit of the rod photoreceptor cGMP-specific phosphodiesterase maps to the very same chromosomal region.
Gal
A
A
Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
Xu
S
S
Piczenik
Y
Y
Eiberg
H
H
Duvigneau
C
C
Schwinger
E
E
Rosenberg
T
T
D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D003718:Denmark; D004596:Electroretinography; D005260:Female; D005796:Genes; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009755:Night Blindness / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D017948:Retinal Rod Photoreceptor Cells / Q000201:enzymology*; D015293:Transducin / Q000235:genetics*
D015293:Transducin