OMIM ID:
Cataracts, Congenital, Autosomal Recessive 5
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
This type of autosomal recessive congenital cataract has been identified in a single consanguineous family. The lens opacities (not further characterized) are the only ocular abnormalities found in two boys and 1 girl belonging to a single sibship born to parent who were second cousins. Extensive systemic evaluations found no evidence of clinical disease as found in Sengers syndrome (212350).
Systemic Features
There are no systemic abnormalities.
Genetics
Inheritance
This type of cataract results from homozygous mutations in AGK (7q33-q36.1), a lipid metabolism gene. Sengers syndrome (212350) is also caused by mutations in the same gene.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.