Expression profile of alpha-crystallin in developing mouse lens.

<p>The expression of <i>Cryaa</i> (blue) and <i>Cryab</i> (orange) at different developmental time points was normalized to <i>Gapdh</i>. A logarithmic trend line (red) fits the <i>Cryab</i> expression with an R² value of 0.7742. The x-axis and y-axis represent developmental time points and normalized expression of each mRNA, respectively.</p

Two-point LOD scores of chromosome 11q markers for families A) PKCC001 and B) PKCC113.

<p>The asterisk indicates marker included in the genome-wide scan.</p

Pedigree drawing of family PKCC025 with haplotypes of chromosome 22q microsatellite markers.

<p>Alleles forming the risk haplotype are shaded black, and alleles not co-segregating with cataracts are shown in white. Squares: males; circles: females; filled symbols: affected individuals; double line between individuals: consanguineous mating; and a diagonal line through a symbol: deceased person.</p

Sequence chromatograms of the c.493G>C (p.Gly165Arg) variation identified in families PKCC063, PKCC131, and PKCC168.

<p>A), D), & G) individuals 18, 7, and 12 of PKCC063, PKCC131, and PKCC168, respectively, homozygous for the wild-type allele; B), E), & H) individuals 19, 8, and 13 of PKCC063, PKCC131, and PKCC168, respectively, heterozygous, and C), F), & I) individuals 20, 9, and 14 of PKCC063, PKCC131, and PKCC168, respectively, homozygous for c.493G>C (p. Gly165Arg).</p

Sequence chromatograms of causal mutations identified in PKCC001 and PKCC113.

<p>Sequence chromatograms of A) Unaffected individual 15 homozygous for wild-type allele; B) unaffected individual 17 heterozygous and C) affected individual 19, homozygous for c.34C>T (p.R12C). Sequence chromatograms of D) unaffected individual 6 homozygous for wild-type allele, E) unaffected individual 8 heterozygous and F) affected individual 10 homozygous for c.31C>T (p.R11C). The arrows point to c.31C and c.34C of <i>CRYAB</i> mutated in PKCC113 and PKCC001, respectively. It is worth to note that mutations identified in PKCC001 and PKCC113 are adjacent amino acids i.e. Arg11, and Arg12.</p

Sequence chromatograms of the c.493G>C variation identified in family PKCC025.

<p>A) Unaffected individual 7, homozygous for the wild-type allele; B) unaffected individual 8, heterozygous; and C) affected individual 15, homozygous for c.493G>C (p.Gly165Arg). D) Illustration of conservation of Gly165 in mammalian <i>CRYBB3</i> orthologs. Primates, Euarchontoglires, Laurasiatheria, Afrotheria and Mammals are colored brown, green, purple, orange and black respectively.</p

Slit lamp photographs of individual 19 of family PKCC001 illustrating nuclear cataracts.

<p>Slit lamp photographs of individual 19 of family PKCC001 illustrating nuclear cataracts.</p

Expression profile of β-crystallin in the developing mouse lens.

<p>The expression of <i>Crybb1</i>, <i>Crybb2</i>, and <i>Crybb3</i> at different developmental time points was normalized to <i>Gapdh</i>. The x-axis and y-axis represent developmental time points and normalized expression of each mRNA, respectively.</p

Slit lamp photograph illustrating nuclear cataracts present in affected individual 15 of family PKCC025.

<p>Slit lamp photograph illustrating nuclear cataracts present in affected individual 15 of family PKCC025.</p

Sequence alignment of <i>CRYAB</i> in mammalian orthologues illustrating the conservation of Arginine at positions 11 and 12.

<p>Primates, Euarchontoglires, Laurasiatheria, and Afrotheria are colored brown, green, purple and orange, respectively.</p