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. 1995 Oct;57(4):840–845.

Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12.

T Padma 1, R Ayyagari 1, J S Murty 1, S Basti 1, T Fletcher 1, G N Rao 1, M Kaiser-Kupfer 1, J F Hejtmancik 1
PMCID: PMC1801479  PMID: 7573044

Abstract

Congenital cataracts constitute a morphologically and genetically heterogeneous group of diseases that are a major cause of childhood blindness. Different loci for hereditary congenital cataracts have been mapped to chromosomes 1, 2, 16, and 17q24. We report linkage of a gene causing a unique form of autosomal dominant zonular cataracts with Y-sutural opacities to chromosome 17q11-12 in a three-generation family exhibiting a maximum lod score of 3.9 at D17S805. Multipoint analysis gave a 1-lod confidence interval of 17 cM. This interval is bounded by the markers D17S799 and D17S798, a region that would encompass a number of candidate genes including that coding for beta A3/A1-crystallin.

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Selected References

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