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

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

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 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

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