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

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