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

X-linked ichthyosis (XLI) is a skin disorder caused by a genetic deletion carried by approximately 7 million individuals worldwide.

Brcic and colleagues use the power of the UK Biobank (comprising ~0.5 million individuals recruited from the UK general population) to show that carriers of XLI-associated deletions are at increased risk of mood symptoms and mild cognitive differences; these effects may be related to reduced volume of the basal ganglia, a brain region involved in attention, impulsivity and mood. The study also suggests that deletion-carrying males are at elevated risk of developing an irregular heartbeat.

The research provides important new information for individuals with XLI and their families, clinicians involved in the care of these patients, and genetic counsellors. (By Dr. William Davies, https://jmg.bmj.com/content/early/2020/03/05/jmedgenet-2019-106676 )

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