Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank

A new (March 2020) paper on medical, behavioural/mental health and brain symptoms in middle-aged male and female carriers of XLI-associated genetic mutations has just been published in the British Medical Journal and is freely-available at: https://jmg.bmj.com/content/early/2020/03/05/jmedgenet-2019-106676.full.

Consistent with previous work, this study shows that individuals with such mutations display elevated mood symptoms (depression, anxiety and irritability), which may be partially explained by changes in a part of the brain known as the basal ganglia. It also shows that mutations carriers exhibit very mild cognitive changes, which do not appear to impact upon academic achievement. Finally, male carriers of XLI-associated mutations appear to be at increased risk of abnormal heart rhythms (1 in 10 XLI males vs. 1 in 40 males from general population); the aim is to investigate this relationship further in future work. Would be interested to hear from any individuals with XLI (or female carriers), and happy to answer any questions!

Email Dr William Davies

Senior Lecturer, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University.