Chen et al. (2011) studied 12 consanguineous Pakistani families segregating autosomal recessive congenital cataract. All affected individuals available for examination had bilateral nuclear cataracts that were either present at birth or developed in infancy. No other ocular or ... Chen et al. (2011) studied 12 consanguineous Pakistani families segregating autosomal recessive congenital cataract. All affected individuals available for examination had bilateral nuclear cataracts that were either present at birth or developed in infancy. No other ocular or systemic abnormalities were present in these families.
In affected members of a consanguineous Pakistani family segregating autosomal recessive congenital cataract (arCC) that mapped to chromosome 3p22-p21, Chen et al. (2011) analyzed 35 candidate genes and identified homozygosity for a nonsense mutation in the FYCO1 gene ... In affected members of a consanguineous Pakistani family segregating autosomal recessive congenital cataract (arCC) that mapped to chromosome 3p22-p21, Chen et al. (2011) analyzed 35 candidate genes and identified homozygosity for a nonsense mutation in the FYCO1 gene (607182.0001); analysis of FYCO1 in 7 additional Pakistani families with arCC mapping to 3p22-p21 revealed homozygosity for 5 different mutations in FYCO1 (see, e.g., 607182.0002 and 607182.0004-607182.0005). Chen et al. (2011) also sequenced FYC01 in 1 affected individual from each of 63 Pakistani families with arCC that did not obtain a lod score greater than 3 at 3p22-p21 and identified homozygous mutations in 4 of the probands (see, e.g., 607182.0003-607182.0005). The mutations segregated with disease in all of the families and were not found in 300 unrelated ethnically matched control chromosomes. In addition, homozygosity for a nonsense mutation in FYC01 was identified in an affected member of a consanguineous Arab Israeli family with congenital cataracts originally reported by Pras et al. (2001) ('family 1'; 607182.0006). Chen et al. (2011) stated that the 43 mutation-positive Pakistani patients represented approximately 10% of the total genetic load of cataracts in their ongoing collaborative study of arCC in Pakistan involving 125 families, suggesting that FYCO1 mutations are among the most common causes of inherited congenital cataracts in the Pakistani population as a whole.