RNF213 p.Arg4810Lys Heterozygosity in Moyamoya Disease Indicates Early Onset and Bilateral Cerebrovascular Events

Ishigami Daiichiro; Miyawaki Satoru; Imai HideakiShimizu MasahiroHongo HirokiDofuku ShogoOhara KentaTeranishi YuShimada DaisukeKoizumi SatoshiOno HideakiHirano YudaiSegawa MasafumiNakatomi HirofumiSaito Nobuhito

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RNF213 p.Arg4810Lys Heterozygosity in Moyamoya Disease Indicates Early Onset and Bilateral Cerebrovascular Events

机译：RNF213 p.Arg4810Lys Heterozygosity in Moyamoya Disease Indicates Early Onset and Bilateral Cerebrovascular Events

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The relationship between RNF213 c.14429G > A (p.Arg4810Lys) heterozygous variants and clinical manifestation in patients with Moyamoya disease (MMD) remains unclear. We performed a retrospective cohort analysis to clarify the genotype-phenotype correlation of this RNF213 hotspot variant in MMD patients, especially between wild-type (GG) and heterozygous (GA) genotypes. Clinical and genetic data were obtained from patients diagnosed with MMD in our institutions between October 2011 and November 2020. Clinical data included age, sex, neurological status at diagnosis, medical history, smoking history, alcohol intake, and family history. Of the 225 enrolled patients, 160 (71.1) were symptomatic, 3 (1.3) had the homozygous variant, and 149 (66.2) had the heterozygous variant (GA). Analysis of all enrolled patients showed that the GA group was prone to present bilateral symptoms (p = 0.008) and progressive status (Suzuki grade >= 4; p = 0.017). Analysis limited to symptomatic patients revealed that the GA group had bilateral symptoms (p = 0.017), younger age at onset (p = 0.043), and, in particular, a higher proportion of onset before 25 years of age (p = 0.021). Multivariate logistic regression analysis of overall patients revealed that earlier age at diagnosis (p < 0.001, OR 0.936, 95 CI 0.914-0.959) and GA group (p = 0.017, OR 3.326, 95CI 1.237-8.941) were significantly associated with bilateral symptoms. MMD patients diagnosed at a young age with the RNF213 heterozygous variant should be followed up with consideration of possible contralateral stroke if one hemisphere is already symptomatic or of early cerebrovascular events if bilateral hemispheres are asymptomatic.

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《Translational stroke research》 |2022年第3期|410-419|共10页
作者
Ishigami Daiichiro; Miyawaki Satoru; Imai HideakiShimizu MasahiroHongo HirokiDofuku ShogoOhara KentaTeranishi YuShimada DaisukeKoizumi SatoshiOno HideakiHirano YudaiSegawa MasafumiNakatomi HirofumiSaito Nobuhito;
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作者单位

Fac Med,Univ Tokyo;

Dept Neurosurg,JCHO Tokyo Shinjuku Med Ctr;

Dept Neurosurg,Kanto Neurosurg HospDept Neurosurg,Kyorin UnivDept Neurosurg,Fuji Brain Inst & Hosp;

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正文语种英语
中图分类神经病学与精神病学;
关键词
Moyamoya; Genotype; RNF213; Genotype-phenotype correlation; Bilateral cerebrovascular events; VARIANT; C.14576G-GREATER-THAN-A; ASSOCIATION; RISK;

RNF213 p.Arg4810Lys Heterozygosity in Moyamoya Disease Indicates Early Onset and Bilateral Cerebrovascular Events

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