RGD Reference Report - Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. - Rat Genome Database

RGD Reference Report - Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. - Rat Genome Database

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Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
Authors:	Dryja, TP McGee, TL Hahn, LB Cowley, GS Olsson, JE Reichel, E Sandberg, MA Berson, EL
Citation:	Dryja TP, etal., N Engl J Med. 1990 Nov 8;323(19):1302-7.
RGD ID:	1601619
Pubmed:	PMID:2215617 (View Abstract at PubMed)
DOI:	DOI:10.1056/NEJM199011083231903 (Journal Full-text)
BACKGROUND. Night blindness is an early symptom of retinitis pigmentosa. The rod photoreceptors are responsible for night vision and use rhodopsin as the photosensitive pigment. METHODS AND RESULTS. We found three mutations in the human rhodopsin gene; each occurred exclusively in the affected members of some families with autosomal dominant retinitis pigmentosa. Two mutations were C-to-T transitions involving separate nucleotides of codon 347; the third was a C-to-G transversion in codon 58. Each mutation corresponded to a change in one amino acid residue in the rhodopsin molecule. None of these mutations were found in 106 unrelated normal subjects who served as controls. When the incidence of these three mutations was added to that of a previously reported mutation involving codon 23, 27 of 150 unrelated patients with autosomal dominant retinitis pigmentosa (18 percent) were found to carry one of these four defects in the rhodopsin gene. All 27 patients had abnormal rod function on monitoring of their electroretinograms. It appears that patients with the mutation involving codon 23 probably descend from a single ancestor. CONCLUSIONS. In some patients with autosomal dominant retinitis pigmentosa, the disease is caused by one of a variety of mutations of the rhodopsin gene.

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Object Symbol	Species	Term	Qualifier	Evidence	With	Notes	Source	Original Reference(s)
RHO	Human	retinitis pigmentosa		IAGP		DNA:point mutation:exon:P23H more ...	RGD
Rho	Rat	retinitis pigmentosa		ISO	RHO (Homo sapiens)	DNA:point mutation:exon:P23H more ...	RGD
Rho	Mouse	retinitis pigmentosa		ISO	RHO (Homo sapiens)	DNA:point mutation:exon:P23H more ...	RGD

Genes (Rattus norvegicus)


Rho (rhodopsin)

Genes (Mus musculus)


Rho (rhodopsin)

Genes (Homo sapiens)


RHO (rhodopsin)