A Second Gene for Cerulean Cataracts Maps to the β Crystallin Region on Chromosome 22 |
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| Authors: | Patricia Kramer Jennifer Yount Thomas Mitchell Dante LaMorticella Roque Carrero-Valenzuela Everett Lovrien Irene Maumenee Michael Litt |
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| Institution: | aDepartment of Neurology, Oregon Health Sciences University, Portland, Oregon, 97201;bDepartment of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, Oregon, 97201;dDepartment of Biochemistry and Molecular Biology, Oregon Health Sciences University, Portland, Oregon, 97201;cCenter for Hereditary Eye Diseases, Johns Hopkins University, Baltimore, Maryland, 21217 |
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| 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, Armitageet al.(Nature Genet.9: 37–40, 1995) mapped a gene for cerulean blue cataracts to chromosome 17q24. Bodkeret 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. |
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