title: A new mechanism in blue cone monochromatism.
abstract: Blue cone monochromatism (BCM) is a rare X-linked colour vision disorder characterized by the absence of both red and green cone sensitivity. Most mutations leading to BCM fall into two classes of alterations in the red and green pigment gene array at Xq28. In one class the red and green pigment genes are inactivated by deletion in the locus control region. In the second class genetic rearrangements have created an isolated pigment gene that carries an inactivating point mutation. Here we describe a clinical case of BCM caused by a new mutation where exon 4 of an isolated red pigment gene has been deleted. The finding represents the first intragenic deletion yet described among red and green pigment genes.
authors.affiliation: Institute of Human Genetics, University of Aarhus, Denmark.
authors.forename: A S
authors.initials: AS
authors.lastname: Ladekjaer-Mikkelsen
authors.forename: T
authors.initials: T
authors.lastname: Rosenberg
authors.forename: A L
authors.initials: AL
authors.lastname: Jørgensen
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D003117:Color Vision Defects / Q000235:genetics*; D005091:Exons; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D017949:Retinal Cone Photoreceptor Cells; D012168:Retinal Pigments / Q000235:genetics*; D014960:X Chromosome
chemical_list: D012168:Retinal Pigments