A second gene for cerulean cataracts maps to the β crystallin region on chromosome 22

Patricia Kramer, Jennifer Yount, Thomas Mitchell, Dante LaMorticella, Roque Carrero-Valenzuela, Everett Lovrien, Irene Maumenee, Michael Litt

Research output: Contribution to journalArticle

52 Scopus citations

Abstract

Congenital cataracts are one of the most common major eye abnormalities and often lead to blindness in infants. At least a third of all cases are familial. Within this group, highly penetrant, autosomal dominant forms of congenital cataracts (ADCC) are most common. ADCC is a genetically heterogeneous group of disorders, in which at least eight different loci have been identified for nine clinically distinct forms. Among these, Armitage et al. (Nature Genet. 9: 37-40, 1995) mapped a gene for cerulean blue cataracts to chromosome 17q24. Bodker et al. (Am. J. Med. Genet. 37: 54-59, 1990) described a large family with cerulean blue cataracts, in which the affected daughter of affected first cousins was presumed to be homozygous for the purported gene. We report linkage in this family to the region on chromosome 22q that includes two β crystallin genes (CRYBB2, CRYBB3) and one pseudogene (CRYBB2P1). The affected female in question is homozygous at all markers.

Original languageEnglish (US)
Pages (from-to)539-542
Number of pages4
JournalGenomics
Volume35
Issue number3
DOIs
StatePublished - Aug 1 1996

ASJC Scopus subject areas

  • Genetics

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    Kramer, P., Yount, J., Mitchell, T., LaMorticella, D., Carrero-Valenzuela, R., Lovrien, E., Maumenee, I., & Litt, M. (1996). A second gene for cerulean cataracts maps to the β crystallin region on chromosome 22. Genomics, 35(3), 539-542. https://doi.org/10.1006/geno.1996.0395