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

Journal of Medical Genetics
Lucija BrcicWilliam Davies

Abstract

X-linked ichthyosis (XLI) is an uncommon dermatological condition resulting from a deficiency of the enzyme steroid sulfatase (STS), often caused by X-linked deletions spanning STS. Some medical comorbidities have been identified in XLI cases, but small samples of relatively young patients has limited this. STS is highly expressed in subcortical brain structures, and males with XLI and female deletion carriers appear at increased risk of developmental/mood disorders and associated traits; the neurocognitive basis of these findings has not been examined. Using the UK Biobank resource, comprising participants aged 40-69 years recruited from the general UK population, we compared multiple medical/neurobehavioural phenotypes in males (n=86) and females (n=312) carrying genetic deletions spanning STS (0.8-2.5 Mb) (cases) to male (n=190 577) and female (n=227 862) non-carrier controls. We identified an elevated rate of atrial fibrillation/flutter in male deletion carriers (10.5% vs 2.7% in male controls, Benjamini-Hochberg corrected p=0.009), and increased rates of mental distress (p=0.003), irritability (p<0.001) and depressive-anxiety traits (p<0.05) in male deletion carriers relative to male controls completing the Mental Health Q...Continue Reading

References

Dec 24, 1983·Lancet·G LykkesfeldtN E Skakkebaek
May 6, 1999·Acta Dermato-venereologica·S A Cuevas-CovarrubiasS H Kofman-Alfaro
Oct 30, 2001·Behavioural Brain Research·Y BenjaminiI Golani
Nov 30, 2007·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Emma S J RobinsonTrevor W Robbins
Mar 3, 2009·Biological Psychiatry·William DaviesLawrence S Wilkinson
Jan 19, 2010·Journal of the American Academy of Dermatology·Neil F FernandesRobert A Schwartz
Aug 18, 2010·Prenatal Diagnosis·Wendy Y CraigJames E Haddow
Dec 23, 2011·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Simon TrentWilliam Davies
Nov 16, 2012·European Journal of Preventive Cardiology·Bouwe P KrijtheJan Heeringa
Mar 13, 2014·Circulation. Arrhythmia and Electrophysiology·Jared W MagnaniAndrea D Coviello
May 21, 2014·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·William DaviesLawrence S Wilkinson
Jun 27, 2014·Clinical Epidemiology·Massimo Zoni-BerissoStefano Domenicucci
Feb 11, 2015·Journal of the American Academy of Dermatology·Jennifer L HandJennelle C Hodge
Mar 8, 2016·The Journal of Dermatology·Takuya Takeichi, Masashi Akiyama
Mar 24, 2016·The Journal of Clinical Endocrinology and Metabolism·Jan IdkowiakWiebke Arlt
Oct 12, 2016·Psychoneuroendocrinology·Trevor HumbyWilliam Davies
Sep 25, 2017·Journal of Medical Case Reports·Amna MalikWafaa Eyaid
Apr 20, 2018·Experimental Dermatology·Andrea DiociaiutiMay El Hachem
Jun 15, 2018·The British Journal of Dermatology·B Rodrigo-NicolásA Hernández-Martín
Jul 31, 2018·F1000Research·John MuschelliCiprian M Crainiceanu
Oct 20, 2018·Frontiers in Physiology·Nathan C DenhamKatharine M Dibb
Jan 17, 2019·Circulation. Genomic and Precision Medicine·Daniel J ClemensMichael J Ackerman
Jul 10, 2019·Journal of Internal Medicine·M ConroyN E Allen

❮ Previous
Next ❯

Citations

Nov 22, 2020·Archives of Women's Mental Health·Harish Thippeswamy, William Davies

❮ Previous
Next ❯

Software Mentioned

Affymetrix Power Tools ( APT )
FreeSurfer
Affy
PennCNV
Linux

Related Concepts

Related Feeds

Basal Ganglia

Basal Ganglia are a group of subcortical nuclei in the brain associated with control of voluntary motor movements, procedural and habit learning, emotion, and cognition. Here is the latest research.

Atrial Fibrillation

Atrial fibrillation is a common arrhythmia that is associated with substantial morbidity and mortality, particularly due to stroke and thromboembolism. Here is the latest research.

Arrhythmia

Arrhythmias are abnormalities in heart rhythms, which can be either too fast or too slow. They can result from abnormalities of the initiation of an impulse or impulse conduction or a combination of both. Here is the latest research on arrhythmias.