Defective colour vision associated with a missense mutation in the human green visual pigment gene.

Abstract:

:All red/green colour vision defects described so far have been associated with gross rearrangements within the red/green opsin gene array (Xq28). We now describe a male with severe deuteranomaly without such a rearrangement. A substitution of a highly conserved cysteine by arginine at position 203 in the green opsins presumably accounted for his colour vision defect. Surprisingly, this mutation was fairly common (2%) in the population but apparently was not always expressed. In analogy with nonexpression of some 5'green-red hybrid genes in persons with normal colour vision, we suggest that failure of manifestation occurs when the mutant gene is located at a distal (3') position among several green opsin genes. This mutation might also predispose to certain X-linked retinal dystrophies.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Winderickx J,Sanocki E,Lindsey DT,Teller DY,Motulsky AG,Deeb SS

doi

10.1038/ng0792-251

keywords:

subject

Has Abstract

pub_date

1992-07-01 00:00:00

pages

251-6

issue

4

eissn

1061-4036

issn

1546-1718

journal_volume

1

pub_type

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