The rarity of these syndromes, caused by damage to a gene named HUWE1, means very few children are affected. Of course, the low absolute numbers are little consolation for children who are born with a severe intellectual disability as a result of gene mutation. Many affected children have distinctive facial features, some struggle to learn to walk, and many never learn to speak. Some have an abnormally small head and have stunted growth. There is no cure. Parents mainly focus on learning enough about how to cope to make everyday life workable.

Many parents are afraid that the cause of their child's condition stems from something they could have avoided. A lot of parents have thought this for years before the child is referred and given a genetic diagnosis, which often adds an extra burden to their situation. Once they know that damage to a gene is the cause, many of them are hugely relieved. It wasn't the one glass of wine during the pregnancy that was the cause after all. The problems that result from the damaged HUWE1 gene have names like Juberg-Marsidi, Say-Meyer or Brooks syndrome.

The gene in question is one of more than 900 found on the X chromosome, the female sex chromosome. Girls have two X chromosomes. Boys have an X chromosome and a Y chromosome. Syndromes that are associated with the X chromosome, such as HUWE1, can therefore have differing degrees of severity in both girls and boys. The damage to the gene occurs when a mutation occurs. All genes have to be copied, but in instances when DNA fails to copy accurately, a mutation results that can lead to a number of diseases.

Regards

John
Editorial Assistant
Immunogenetics Open Access