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Title: A second gene for cerulean cataracts maps to the {beta} crystallin region on chromosome 22

Abstract

Cogenital 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. mapped a gene for cerulean blue cataracts to chromosome 17q24. Bodker et al. 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 {beta} crystallin genes (CRYBB2, CRYBB3) and one pseudogene (CRYBB2P1). The affected female in question is homozygous at all markers. 25 refs., 1 fig., 1 tab.

Authors:
; ;  [1]
  1. Oregon Health Sciences Univ., Portland, OR (United States); and others
Publication Date:
OSTI Identifier:
465990
Resource Type:
Journal Article
Journal Name:
Genomics
Additional Journal Information:
Journal Volume: 35; Journal Issue: 3; Other Information: PBD: 1 Aug 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; CATARACTS; GENETICS; GENES; GENETIC MAPPING; HUMAN CHROMOSOME 22; M CODES; MAN; HEREDITARY DISEASES; CONGENITAL DISEASES; HUMAN CHROMOSOME 17; CRYSTALLINE LENS; DOMINANT MUTATIONS; BIOLOGICAL MARKERS; STATISTICS

Citation Formats

Kramer, P, Yount, J, and Lovrien, E. A second gene for cerulean cataracts maps to the {beta} crystallin region on chromosome 22. United States: N. p., 1996. Web. doi:10.1006/geno.1996.0395.
Kramer, P, Yount, J, & Lovrien, E. A second gene for cerulean cataracts maps to the {beta} crystallin region on chromosome 22. United States. https://doi.org/10.1006/geno.1996.0395
Kramer, P, Yount, J, and Lovrien, E. 1996. "A second gene for cerulean cataracts maps to the {beta} crystallin region on chromosome 22". United States. https://doi.org/10.1006/geno.1996.0395.
@article{osti_465990,
title = {A second gene for cerulean cataracts maps to the {beta} crystallin region on chromosome 22},
author = {Kramer, P and Yount, J and Lovrien, E},
abstractNote = {Cogenital 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. mapped a gene for cerulean blue cataracts to chromosome 17q24. Bodker et al. 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 {beta} crystallin genes (CRYBB2, CRYBB3) and one pseudogene (CRYBB2P1). The affected female in question is homozygous at all markers. 25 refs., 1 fig., 1 tab.},
doi = {10.1006/geno.1996.0395},
url = {https://www.osti.gov/biblio/465990}, journal = {Genomics},
number = 3,
volume = 35,
place = {United States},
year = {Thu Aug 01 00:00:00 EDT 1996},
month = {Thu Aug 01 00:00:00 EDT 1996}
}