Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-07-04

AUTHORS

Ken Saida, Chong Ae Kim, José Ricardo Magliocco Ceroni, Debora Romeo Bertola, Rachel Sayuri Honjo, Satomi Mitsuhashi, Atsushi Takata, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Naomichi Matsumoto

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. More... »

PAGES

885-890

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s10038-019-0626-0

DOI

http://dx.doi.org/10.1038/s10038-019-0626-0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1117728158

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/31270375


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81 phenotype
82 rare disease
83 renal artery stenosis
84 renovascular hypertension
85 secondary hypertension
86 seizure episodes
87 seizures
88 sequencing
89 stenosis
90 stroke
91 syndrome
92 thalamic hemorrhage
93 tomography angiography
94 ultra-rare syndrome
95 variants
96 vascular anomalies
97 whole-exome sequencing
98 years
99 years of age
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