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

T. Padma, R. Ayyagari, J. S. Murty, S. Basti, T. Fletcher, G. N. Rao, M. Kaiser- Kupfer, J. F. Hejtmancik*

*Corresponding author for this work

Research output: Contribution to journalArticle

58 Scopus citations

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 D17S795, a region that would encompass a number of candidate genes including that coding for βA3/A1-crystallin.

Original languageEnglish (US)
Pages (from-to)840-845
Number of pages6
JournalAmerican Journal of Human Genetics
Volume57
Issue number4
StatePublished - Jan 1 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Padma, T., Ayyagari, R., Murty, J. S., Basti, S., Fletcher, T., Rao, G. N., Kaiser- Kupfer, M., & Hejtmancik, J. F. (1995). Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12. American Journal of Human Genetics, 57(4), 840-845.