My son had a DNA test which showed he has the Wolfram gene but only in one gene not both, and the doctor asked about his behaviour problems and eyesight (which are both bad, and he is going for a hearing test next month) didn’t seem worried. However, after reading about DIDMOAD I am a bit concerned. Can you enlighten me more?

Wolfram Syndrome or DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Blindness) is a rare and clinically very variable autosomally recessive disorder of the short arm of chromosome 4. In the homozygous or affected form, the chromosomal abnormality is not necessarily the same in both genes. There is also a poorly understood link to a disorder of mtDNA (mitochondrial DNA) which may be maternally inherited or spontaneous. So far as I can find out, children with only one gene affected, heterozygotes, seem only to be specially vulnerable to behavioural problems and do not have any of the other components of the syndrome. There is a detailed account in Wolfram Syndrome at the National Center for Biotechnology Information website.

I think you need to talk to his obviously very astute doctor as to whether his eyesight problems are refractory or whether there is any evidence of optic atrophy. If he does turn out to have a hearing problem as well, it may be that the chromosome interpretation was partially incorrect and that he is in fact what is called a double heterozygote or that he additionally has a mtDNA component.

I do understand your concern and hope that nothing more will develop.

DOB