OMIM ID:
Cataracts 34
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
Two families with mutations in the FOXE3 associated with cataracts have been reported. The lens opacities may be present at birth or found soon thereafter. In 1 family with 5 affected sibs membranous cataracts were present along with corneal opacities, microcornea and nystagmus. In another family, 7 sibs had posterior subcapsular cataracts but no other ocular findings.
Systemic Features
No systemic abnormalities were associated with the ocular findings.
Genetics
Inheritance
Homozygous mutations in the FOXE3 (1p33) gene segregated with the eye findings in the two families. FOXE3 is a transcription gene and its mutations are responsible for a variety of ocular abnormalities.
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.