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Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/RDS and ROM1 Loci

Kazuto Kajiwara, Eliot L. Berson, and Thaddeus P. DryjaAuthors Info & Affiliations
Science
10 Jun 1994
Vol 264, Issue 5165
pp. 1604-1608
DOI: 10.1126/science.8202715
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Abstract

In spite of recent advances in identifying genes causing monogenic human disease, very little is known about the genes involved in polygenic disease. Three families were identified with mutations in the unlinked photoreceptor-specific genes ROM1 and peripherin/RDS, in which only double heterozygotes develop retinitis pigmentosa (RP). These findings indicate that the allelic and nonallelic heterogeneity known to be a feature of monogenic RP is complicated further by interactions between unlinked mutations causing digenic RP. Recognition of the inheritance pattern exemplified by these three families might facilitate the identification of other examples of digenic inheritance in human disease.

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Science
Volume 264 | Issue 5165
10 June 1994

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© 1994.

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Published in print: 10 June 1994

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Authors

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Kazuto Kajiwara
Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA.
Howe Laboratory of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA.
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Eliot L. Berson
Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA.
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Thaddeus P. Dryja
Howe Laboratory of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA.
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  • Kazuto Kajiwara et al.
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Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/RDS and ROM1 Loci.Science264,1604-1608(1994).DOI:10.1126/science.8202715

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