WFS1: A heterozygous missense mutation in the gene for autosomal recessive Wolfram syndrome (WFS1) on chromosome 4p, which includes diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) with or without congenital cataract, was first found in an Irish pedigree segregating isolated autosomal dominant congenital nuclear cataract [133]. This evidence concerns the gene WFS1 and Leber hereditary optic neuropathy.