Jpn J Hum Genet. 1992 Jun;37(2):125-32.

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP).

Fujiki K, Hotta Y, Hayakawa M, Sakuma H, Shiono T, Noro M, Sakuma T, Tamai M, Hikiji K, Kawaguchi R, et al.

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Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.

Abstract

The mutations of codon 17, 23, 58, and 347 of rhodopsin gene were investigated in 24 unrelated Japanese families including 33 patients with autosomal dominant retinitis pigmentosa (ADRP). A patient with codon 17 mutation (Thr-17-Met, ACG-->ATG) and a family including 4 patients with codon 347 mutation (Pro-347-Leu, CCG-->CTG) were detected among them. Their clinical findings were extremely different between the two mutations. The former showed type 2 and the latter showed type 1 ADRP. No mutation of codon 23 and 58 was detected in any families so far analyzed in the present study. Clinical findings associated with the mutation in codon 17 and 347 of the rhodopsin gene show an existence of allelic heterogeneity.

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[Molecular biological study of the rhodopsin gene in Japanese patients with autosomal dominant retinitis pigmentosa]. [Nihon Ganka Gakkai Zasshi. 1992]
[Molecular biological study of the rhodopsin gene in Japanese patients with autosomal dominant retinitis pigmentosa].
Hotta Y, Shiono T, Hayakawa M, Hashimoto T, Kanai A, Nakajima A, Noro M, Sakuma T, Tamai M, Fujiki K. Nihon Ganka Gakkai Zasshi. 1992 Feb; 96(2):237-42.
Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa. [Jpn J Hum Genet. 1995]
Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa.
Fujiki K, Hotta Y, Murakami A, Yoshii M, Hayakawa M, Ichikawa T, Takeda M, Akeo K, Okisaka S, Kanai A. Jpn J Hum Genet. 1995 Sep; 40(3):271-7.
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Review Ocular findings in a form of retinitis pigmentosa with a rhodopsin gene defect.
Berson EL. Trans Am Ophthalmol Soc. 1990; 88:355-88.

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Cited by 4 PubMed Central articles

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients. [Invest Ophthalmol Vis Sci. 2010]
Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.
Audo I, Manes G, Mohand-Saïd S, Friedrich A, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Zanlonghi X, Hamel CP, et al. Invest Ophthalmol Vis Sci. 2010 Jul; 51(7):3687-700. Epub 2010 Feb 17.
Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa. [Mol Vis. 2007]
Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.
Ando Y, Ohmori M, Ohtake H, Ohtoko K, Toyama S, Usami R, O'hira A, Hata H, Yanashima K, Kato S. Mol Vis. 2007 Jun 29; 13:1038-44. Epub 2007 Jun 29.
Review Finding and interpreting genetic variations that are important to ophthalmologists. [Trans Am Ophthalmol Soc. 2003]
Review Finding and interpreting genetic variations that are important to ophthalmologists.
Stone EM. Trans Am Ophthalmol Soc. 2003; 101:437-84.

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Point mutations of rhodopsin gene found in Japanese families with autosomal domi...
Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP).
Jpn J Hum Genet. 1992 Jun ;37(2):125-32.

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