Cataracts, Congenital, With Short Stature and Minor Skeletal Anomalies
Defective Genes
Clinical Characteristics
Ocular Features
Early-onset cataracts are the main ocular feature of this syndrome. A nonconsanguineous Korean family with 4 affected individuals has been reported. Cataracts were diagnosed at various ages, including one adult, one juvenile, and one infant. All had horizontal nystagmus and reduced vision even after surgical removal of the lenses.
Systemic Features
Macrocephaly and short stature are consistent features. Brachydactyly of the fingers is usually present. The feet are described as “flat” and contain accessory navicular bones.
Genetics
Inheritance
A 3 generation Korean family with 4 affected members has been reported. Three living members and a deceased grandfather had cataracts in an autosomal dominant pattern. A mutation in the BRD4 gene (19p12.12) mutation segregated with the cataract phenotype.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission