AlFadhli et al. (2012) studied a 3-generation consanguineous Kuwaiti family segregating congenital cataract of multiple types in an autosomal dominant pattern. Four family members had lamellar cataracts, including the proband and her father, her paternal grandfather, and a ... AlFadhli et al. (2012) studied a 3-generation consanguineous Kuwaiti family segregating congenital cataract of multiple types in an autosomal dominant pattern. Four family members had lamellar cataracts, including the proband and her father, her paternal grandfather, and a cousin; 2 family members had anterior polar cataracts in the pupillary region, including the paternal grandmother, who was of Egyptian origin, and another cousin; and the proband's paternal uncle had complete cataracts. There was no history of other ocular or systemic abnormalities in the family.
In a 3-generation Kuwaiti family with autosomal dominant congenital cataract mapping to chromosome 2q33-q37, AlFadhli et al. (2012) screened the 4 candidate gamma-crystallin genes, CRYGA (123660), CRYGB (123670), CRYGC (123680), and CRYGD (123690), and identified 2 different mutations ... In a 3-generation Kuwaiti family with autosomal dominant congenital cataract mapping to chromosome 2q33-q37, AlFadhli et al. (2012) screened the 4 candidate gamma-crystallin genes, CRYGA (123660), CRYGB (123670), CRYGC (123680), and CRYGD (123690), and identified 2 different mutations in the CRYGB gene, each with an autosomal dominant mode of inheritance. The first was a 1-bp deletion in exon 2 (123670.0001) that was maternally inherited from the Egyptian grandmother and segregated with anterior polar cataracts, and the other was a 1-bp intronic deletion (123670.0002) that was paternally inherited from the Kuwaiti grandfather and segregated with the lamellar cataract phenotype. The patient with complete cataracts was the only family member who was compound heterozygous for both mutations. Neither mutation was found in 50 age-, gender-, and ethnicity-matched controls.