TY - JOUR
T1 - A second gene for cerulean cataracts maps to the β crystallin region on chromosome 22
AU - Kramer, Patricia
AU - Yount, Jennifer
AU - Mitchell, Thomas
AU - LaMorticella, Dante
AU - Carrero-Valenzuela, Roque
AU - Lovrien, Everett
AU - Maumenee, Irene
AU - Litt, Michael
N1 - Funding Information:
This work was funded by a grant from the Medical Research Foundation of Oregon (to P.K., Neurology Department, Oregon Health Sciences University), a grant from the National Institutes of Health, HG0022 (to M.L., Biochemistry and Molecular Biology Department, Oregon Health Sciences University), and the Krieble and Walter Edel funds of the Johns Hopkins Center for Hereditary Eye Diseases.
PY - 1996/8/1
Y1 - 1996/8/1
N2 - 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.
AB - 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.
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U2 - 10.1006/geno.1996.0395
DO - 10.1006/geno.1996.0395
M3 - Article
C2 - 8812489
AN - SCOPUS:0030217901
SN - 0888-7543
VL - 35
SP - 539
EP - 542
JO - Genomics
JF - Genomics
IS - 3
ER -