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. 2013 Sep 25;24(12):993ā€“1006. doi: 10.1089/hum.2013.153

FIG. 1.

FIG. 1.

Pedigrees and genotypes of BCM families. (A) Pedigrees of the 11 families. Black-filled squares, males diagnosed with BCM based on clinical evaluations and molecular testing; gray-filled squares, affected males by history;+, positive for familial BCM mutation; unfilled squares, unaffected males by history; dotted circles, carrier females. (B) Schematic representation of BCM genotypes. In individuals with normal color vision, the X-chromosomal OPN1LW/OPN1MW gene array consists of a proximal long-wavelength-sensitive opsin (OPN1LW) gene (dark-gray arrow), and one or more middle-wavelength-sensitive opsin (OPN1MW) genes (light-gray arrow) arranged in a head-to-tail tandem repeat. Subscript ā€œnā€ indicates one or more M pigment genes. L/M hybrid genes are shown (dark-/light-gray arrow). Each gene is preceded by a proximal promoter and the expression is controlled by a single LCR upstream of the array (black rectangle). Genetic analyses implied that the OPN1LW/OPN1MW gene clusters in all patients of this study were impaired by large deletions affecting the LCR and varying parts of the opsin gene cluster with the exception of Family 1, which had an intact LCR with a deletion spanning the OPN1LW and OPN1MW genes. Brackets demarcate the deletions; deletion size is indicated inside the brackets where defined. BCM, blue-cone monochromacy; LCR, locus control region.

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