Congenital cataracts cause 10 to 30% of all blindness in children, with one-third of cases estimated to have a genetic cause (summary by Bu et al., 2002). Mutations in the HSF4 gene have been found to cause multiple ... Congenital cataracts cause 10 to 30% of all blindness in children, with one-third of cases estimated to have a genetic cause (summary by Bu et al., 2002). Mutations in the HSF4 gene have been found to cause multiple types of cataract, which have been described as infantile, lamellar, zonular, nuclear, anterior polar, stellate, and Marner-type. The preferred title for this entry was formerly 'Lamellar Cataract,' with 'Cataract, Marner Type; CAM; CTM' an included title.
Striking pedigrees segregating cataract were reported by Cridland (1918), Hilbert (1912), Jankiewicz and Freeberg (1956), Keizer (1952), Knapp (1926), and Marner (1949), among others. In the Dutch family reported by Marner (1949), 132 individuals in 8 generations were ... Striking pedigrees segregating cataract were reported by Cridland (1918), Hilbert (1912), Jankiewicz and Freeberg (1956), Keizer (1952), Knapp (1926), and Marner (1949), among others. In the Dutch family reported by Marner (1949), 132 individuals in 8 generations were affected, mainly by zonular cataract but some by nuclear, anterior polar, or stellate cataract. The opacities were progressive, and 'anticipation' (progressively earlier onset in successive generations) was suggested. Marner et al. (1989) provided a follow-up on this family. Bu et al. (2002) reported affected members of a large Chinese family with lamellar cataract described as a perinuclear-shaped lens opacity with a transparent embryonic nucleus. The earliest age of observed onset was 15 months.
Bu et al. (2002) identified a missense mutation in the HSF4 gene (602438.0002) in affected members of the Danish family with cataract reported by Marner (1949) and studied by Eiberg et al. (1988). They also identified mutations in ... Bu et al. (2002) identified a missense mutation in the HSF4 gene (602438.0002) in affected members of the Danish family with cataract reported by Marner (1949) and studied by Eiberg et al. (1988). They also identified mutations in the HSF4 gene (602438.0001; 602438.0003-602438.0004) in affected members of a large Chinese family with lamellar cataract.