ArticleJournal of medical genetics2023
Characterising heart rhythm abnormalities associated with Xp22.31 deletion.
Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 10 citations in OpenAlex.
- Physiological and Behavioural Characterisation of a Novel Steroid Sulfatase-Deficient Mouse.Genes, brain, and behavior · 2026Article
- Steroid Sulfatase Deficiency: Clinical Manifestations and Psychological Aspects in Light of Current Evidence.Clinical, cosmetic and investigational dermatology · 2026Review
- Cardiac arrhythmia, developmental delay, epilepsy and ichthyosis due to Xp22.31 deletion: review of literature and case report.Translational pediatrics · 2025Article
- Sudden Cardiac Arrest in an Adolescent with X-Linked Ichthyosis.Anatolian journal of cardiology · 2025Article
- Monitoring heart rhythms in adult males with X-linked ichthyosis using wearable technology: a feasibility study.Archives of dermatological research · 2025Article
- Cardiac arrhythmia in individuals with steroid sulfatase deficiency (X-linked ichthyosis): candidate anatomical and biochemical pathways.Essays in biochemistry · 2024Review
- Patients with (familial) atrial fibrillation: take off the sweater.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2024Article
- Estrogen sulfotransferase and sulfatase in steroid homeostasis, metabolic disease, and cancer.Steroids · 2024Review
- Syndromic ichthyoses.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- RNA sequencing and lipidomics uncovers novel pathomechanisms in recessive X-linked ichthyosis.Frontiers in molecular biosciences · 2023Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundGenetic deletions at Xp22.31 are associated with the skin condition X linked ichthyosis (XLI), and with a substantially increased risk of atrial fibrillation/flutter (AF), in males. AF is associated with elevated thrombosis, heart failure, stroke and dementia risk.
methodsThrough: (a) examining deletion carriers with a diagnosis of AF in UK Biobank, (b) undertaking an online survey regarding abnormal heart rhythms (AHRs) in men/boys with XLI and female carriers of XLI-associated deletions and (c) screening for association between common genetic variants within Xp22.31 and idiopathic AF-related conditions in UK Biobank, we have investigated how AHRs manifest in deletion carriers, and have identified associated risk factors/comorbidities and candidate gene(s). Finally, we examined attitudes towards heart screening in deletion carriers.
resultsWe show that AHRs may affect up to 35% of deletion carriers (compared with <20% of age-matched non-carriers), show no consistent pattern of onset but may be precipitated by stress, and typically resolve quickly and respond well to intervention. Gastrointestinal (GI) conditions and asthma/anaemia were the most strongly associated comorbidities in male and female deletion carriers with AHR, respectively. Genetic analysis indicated significant enrichment of common AF risk variants around
conclusionOur data suggest AHRs are frequently associated with Xp22.31 deletion, and highlight subgroups of deletion carriers that may be prioritised for screening. Examining cardiac function further in deletion carriers, and in model systems lacking steroid sulfatase, may clarify AF pathophysiology.
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