ArticleJournal of human genetics2019
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1.
Article in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 2 of them syntheses that pooled it.
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Who cites it
9 citing papers in PubMed, 2 syntheses or guidelines pooled it, 16 citations in OpenAlex.
- Pediatric Intracerebral Hemorrhage Management-Consensus Statement of the International Pediatric Stroke Organization-Part 1: Acute Phase and Workup.Journal of the American Heart Association · 2026Guideline
- The clinical and radiological cerebrovascular abnormalities associated with renovascular hypertension in children: a systematic review.Pediatric nephrology (Berlin, Germany) · 2022Pooled it
- A novel compound heterozygous YY1AP1 variant in Grange syndrome: importance of early signs in preventing life-threatening vascular complications.Journal of human genetics · 2026Article
- The New Youngest Case of Grange Syndrome with a Novel Biallelic Pathogenic Variant inMolecular syndromology · 2023Article
- The complex genetic basis of fibromuscular dysplasia, a systemic arteriopathy associated with multiple forms of cardiovascular disease.Clinical science (London, England : 1979) · 2022Review
- The Genetic Basis of Strokes in Pediatric Populations and Insight into New Therapeutic Options.International journal of molecular sciences · 2022Review
- Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease.Orphanet journal of rare diseases · 2021Article
- Article
- Autosomal dominant Alport syndrome due to a COL4A4 mutation with an additional ESPN variant detected by whole-exome analysis.CEN case reports · 2020Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
Abstract
Pediatric hypertension can cause hypertensive emergencies, including hemorrhagic stroke, contributing to rare but serious childhood morbidity and mortality. Renovascular hypertension (RVH) is one of the major causes of secondary hypertension in children. Grange syndrome (MIM#602531) is a rare disease characterized by multiple stenosis or occlusion of the renal, abdominal, coronary, and cerebral arteries, which can cause phenotypes of RVH and fibromuscular dysplasia (MIM#135580). We report the case of a 7-year-old girl with Grange syndrome who showed RVH and multiple seizure episodes. At 1 year of age, she experienced seizures and sequential hemiparesis caused by a left thalamic hemorrhage without cerebral vascular anomalies. Chronic hypertension was observed, and abdominal computed tomography angiography showed characteristic bilateral renal artery stenosis. Whole-exome sequencing revealed a novel homozygous pathogenic variant in the YY1AP1 gene (NM_001198903.1: c.1169del: p.Lys390Argfs*12). Biallelic YY1AP1 mutations are known to cause Grange syndrome. Unlike previously reported patients, our patient presented with intracerebral hemorrhagic stroke without anomalous brain artery or bone fragility. The phenotype in our patient may help better understand this ultra-rare syndrome. Grange syndrome should be considered in patients presenting with childhood-onset hypertension and/or hemorrhagic stroke for early clinical intervention.
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