A. Vanita, Jai Rup Singh, Virinder K

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A Novel Form of “Central Pouchlike” Cataract, with Sutural Opacities, Maps to Chromosome 15q21-22 A. Vanita, Jai Rup Singh, Virinder K. Sarhadi, Daljit Singh, André Reis, Franz Rueschendorf, Johannes Becker-Follmann, Martin Jung, Karl Sperling The American Journal of Human Genetics Volume 68, Issue 2, Pages 509-514 (February 2001) DOI: 10.1086/318189 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 1 Slit-lamp photograph, under direct focal illumination, of an 8-year-old patient showing central pouchlike cataract with sutural opacities. Viewed in three dimensions, the cataract appears as a six-sided central pouch, on which are seen anterior and posterior sutural opacities, with increased prominence at their ends. One limb of the anterior Y suture ends in a dumbbell-shaped opacity, whereas the other two limbs end in knobs. Of the three limbs of the posterior Y suture, one ends in a small dumbbell-shaped opacity, the second ends in a knob, and the third is not visible. At the junction of three limbs of the anterior Y suture, the Y suture itself has split apart. The lens matter surrounding the central pouch also shows generalized opacifications. The American Journal of Human Genetics 2001 68, 509-514DOI: (10.1086/318189) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 2 Detailed pedigree of CC-51 family with disease segregating in seven generations The American Journal of Human Genetics 2001 68, 509-514DOI: (10.1086/318189) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 3 Analyzed portion of family CC-51 showing haplotypes for markers on chromosome 15. Sequence of markers is from centromere to telomere. Blackened bars indicate the affected haplotype. Inferred haplotypes are in parentheses. Uninformative markers are indicated by a vertical line in the haplotype bar. Recombination in individuals 008, 033, 049, and 041 places the disease locus between marker D15S209 and D15S1036. The American Journal of Human Genetics 2001 68, 509-514DOI: (10.1086/318189) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 4 Multipoint linkage analysis of cataract locus with chromosome 15 markers. The X-axis denotes the map of chromosome 15 markers (distance in cM), and the Y-axis indicates the LOD scores. The multipoint LOD score curve shows the highest peak value of 5.978 at locus D15S117, and the curve delimits the position of the disease gene as between markers D15S209 and D15S1036. The American Journal of Human Genetics 2001 68, 509-514DOI: (10.1086/318189) Copyright © 2001 The American Society of Human Genetics Terms and Conditions