Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the β-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3
- 1 February 1994
- journal article
- research article
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 3 (2) , 323-325
- https://doi.org/10.1093/hmg/3.2.323
Abstract
We studied a large multigeneration Danish family with autosomal dominant congenital stationary night blindness. Both electrophysiological and psycho-physical 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 Z max= 14.4) to the locus for alpha-L-iduronidase assigned to chromosome 4p16.3. Interestingly the gene for the β-subunit of the rod photoreceptor cGMP-specific phos-phodiesterase maps to the very same chromosomal region.Keywords
This publication has 3 references indexed in Scilit:
- Recessive mutations in the gene encoding the β–subunit of rod phosphodiesterase in patients with retinitis pigmentosaNature Genetics, 1993
- Human Rod cGMP-Gated Cation Channel Gene Maps to 4p12 → Centromere by Chromosomal in Situ HybridizationGenomics, 1993
- Genomic organization and complete sequence of the human gene encoding the β-subunit of the cGMP phosphodiesterase and its localisation to 4p16.3Nucleic Acids Research, 1991