Homozygous c.14576G&gt;A variant of
            <i>RNF213</i>
            predicts early-onset and severe form of moyamoya disease

Miyatake, Satoko; Miyake, Noriko; Touho, Hajime; Nishimura-Tadaki, A.; Kondo, Yukiko; Okada, Ichiro; Tsurusaki, Yoshinori; Doi, Hiroshi; Sakai, Hiromu; Saitsu, Hirotomo; Shimojima, Keiko; Yamamoto, Tatsuya; Higurashi, Masakazu; Kawahara, Nobutaka; Kawauchi, H.; Nagasaka, Kenji; Okamoto, Nobuhiko; Mori, Takeshi; Koyano, Shigeru; Kuroiwa, Yoshifumi; Taguri, Masataka; Morita, Satoshi; Matsubara, Yoichi; Kure, Shigeo; Matsumoto, Naomichi

doi:10.1212/wnl.0b013e318249f71f

Cited by 280 publications

(267 citation statements)

References 26 publications

Supporting

Mentioning

229

Contrasting

Order By: Relevance

“…There is little knowledge of how genes contribute to moyamoya syndrome, probably because of its multifactorial nature and also because of the heterogeneity of the associated genetic disorders. Mutations in the RNF213 gene, which are now recognized as a risk factor and that are associated with aggressive moyamoya, were not found [13,14]. This is in agreement with the relatively late and benign disease shown here.…”

Section: Discussionsupporting

confidence: 91%

Caucasian Familial Moyamoya Syndrome With Rare Multisystemic Malformations

Nzwalo

Santos

Gradil

et al. 2013

Pediatric Neurology

View full text Add to dashboard Cite

Moyamoya disease is an idiopathic progressive steno-occlusive disorder of the intracranial arteries located at the base of the brain. It is associated with the development of compensatory extensive network of fine collaterals. Moyamoya disease is considered syndromic when certain genetic or acquired disorders such as polycystic kidney disease, neurofibromatosis, or meningitis are also present. Although the genetic contribution in moyamoya is indisputable, its cause and pathogenesis remain under discussion. Herein, we report a rare occurrence of moyamoya syndrome in two European Caucasian siblings in association with unusual multisystemic malformations (polycystic kidney disease in one, and intestinal duplication cyst in the other). The karyotype was normal. No mutation in the RFN213 gene was found, and none of the HLA types linked to moyamoya disease or described in similar familial cases were identified. By describing these multisystemic associations, polycystic kidney disease for the second time, and intestinal malformation for the first time in the literature, our report expands the phenotypic variability of moyamoya syndrome. The coexistence of disparate malformations among close relatives suggests an underlying common genetic background predisposing to structural or physiological abnormalities in different tissues and organs.

show abstract

Section: Discussionsupporting

confidence: 91%

Caucasian Familial Moyamoya Syndrome With Rare Multisystemic Malformations

Nzwalo

Santos

Gradil

et al. 2013

Pediatric Neurology

View full text Add to dashboard Cite

show abstract

“…It is suggested that the incidence rate of MMD is relatively low if one had the heterozygous variant, whereas incidence rate for homozygotes are extremely high (478%). 6 This also reflects the effect of this variant with the dose effect.…”

mentioning

confidence: 91%

“…4 In addition, c.14576G4A homozygotes exhibit more severe and wider vasculopathy than heterozygotes. 6 Here, we present sibling cases of MMD having homozygous and heterozygous c.14576G4A variant in RNF213, as well as different clinical course and disease severity.…”

mentioning

confidence: 96%

See 1 more Smart Citation

Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity

et al. 2012

View full text Add to dashboard Cite

“…7 Evidence suggests that RNF213 gene on chromosome 17q25.3 is an important predisposing factor for MMD in East Asian populations. [8][9][10][11][12][13] The disease is most common in children and young adolescents, with two peaks of incidence: the first decade of life and the third decade of life.…”

Section: Discussionmentioning

confidence: 99%