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Start Over Author "S. Koyano" Journal neurology
2 results on '"S. Koyano"'

1. Homozygous c.14576GA variant of RNF213 predicts early-onset and severe form of moyamoya disease

Author

S, Miyatake, N, Miyake, H, Touho, A, Nishimura-Tadaki, Y, Kondo, I, Okada, Y, Tsurusaki, H, Doi, H, Sakai, H, Saitsu, K, Shimojima, T, Yamamoto, M, Higurashi, N, Kawahara, H, Kawauchi, K, Nagasaka, N, Okamoto, T, Mori, S, Koyano, Y, Kuroiwa, M, Taguri, S, Morita, Y, Matsubara, S, Kure, and N, Matsumoto

Subjects
Adult, Male, Adolescent, Genotype, Ubiquitin-Protein Ligases, DNA Mutational Analysis, Young Adult, Predictive Value of Tests, Intellectual Disability, Humans, Family, Genetic Predisposition to Disease, Age of Onset, Child, Genetic Association Studies, Adenosine Triphosphatases, Posterior Cerebral Artery, Sex Characteristics, Epilepsy, Homozygote, Infant, Newborn, Genetic Variation, Infant, Cerebral Infarction, DNA, Middle Aged, Phenotype, Child, Preschool, Female, Moyamoya Disease, Biomarkers
Abstract

RNF213 was recently reported as a susceptibility gene for moyamoya disease (MMD). Our aim was to clarify the correlation between the RNF213 genotype and MMD phenotype.The entire coding region of the RNF213 gene was sequenced in 204 patients with MMD, and corresponding variants were checked in 62 pairs of parents, 13 mothers and 4 fathers of the patients, and 283 normal controls. Clinical information was collected. Genotype-phenotype correlations were statistically analyzed.The c.14576GA variant was identified in 95.1% of patients with familial MMD, 79.2% of patients with sporadic MMD, and 1.8% of controls, thus confirming its association with MMD, with an odds ratio of 259 and p0.001 for either heterozygotes or homozygotes. Homozygous c.14576GA was observed in 15 patients but not in the controls and unaffected parents. The incidence rate for homozygotes was calculated to be78%. Homozygotes had a significantly earlier age at onset compared with heterozygotes or wild types (median age at onset 3, 7, and 8 years, respectively). Of homozygotes, 60% were diagnosed with MMD before age 4, and all had infarctions as the first symptom. Infarctions at initial presentation and involvement of posterior cerebral arteries, both known as poor prognostic factors for MMD, were of significantly higher frequency in homozygotes than in heterozygotes and wild types. Variants other than c.14576GA were not associated with clinical phenotypes.The homozygous c.14576GA variant in RNF213 could be a good DNA biomarker for predicting the severe type of MMD, for which early medical/surgical intervention is recommended, and may provide a better monitoring and prevention strategy.

Published
2012

2. Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease.

Author

Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, Tsurusaki Y, Doi H, Sakai H, Saitsu H, Shimojima K, Yamamoto T, Higurashi M, Kawahara N, Kawauchi H, Nagasaka K, Okamoto N, Mori T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsubara Y, Kure S, and Matsumoto N

Subjects
Adenosine Triphosphatases, Adolescent, Adult, Age of Onset, Biomarkers, Cerebral Infarction etiology, Child, Child, Preschool, DNA genetics, DNA Mutational Analysis, Epilepsy complications, Family, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, Genotype, Homozygote, Humans, Infant, Infant, Newborn, Intellectual Disability complications, Intellectual Disability psychology, Male, Middle Aged, Moyamoya Disease pathology, Phenotype, Posterior Cerebral Artery pathology, Predictive Value of Tests, Sex Characteristics, Young Adult, Moyamoya Disease genetics, Ubiquitin-Protein Ligases genetics
Abstract

Objective: RNF213 was recently reported as a susceptibility gene for moyamoya disease (MMD). Our aim was to clarify the correlation between the RNF213 genotype and MMD phenotype., Methods: The entire coding region of the RNF213 gene was sequenced in 204 patients with MMD, and corresponding variants were checked in 62 pairs of parents, 13 mothers and 4 fathers of the patients, and 283 normal controls. Clinical information was collected. Genotype-phenotype correlations were statistically analyzed., Results: The c.14576G>A variant was identified in 95.1% of patients with familial MMD, 79.2% of patients with sporadic MMD, and 1.8% of controls, thus confirming its association with MMD, with an odds ratio of 259 and p < 0.001 for either heterozygotes or homozygotes. Homozygous c.14576G>A was observed in 15 patients but not in the controls and unaffected parents. The incidence rate for homozygotes was calculated to be >78%. Homozygotes had a significantly earlier age at onset compared with heterozygotes or wild types (median age at onset 3, 7, and 8 years, respectively). Of homozygotes, 60% were diagnosed with MMD before age 4, and all had infarctions as the first symptom. Infarctions at initial presentation and involvement of posterior cerebral arteries, both known as poor prognostic factors for MMD, were of significantly higher frequency in homozygotes than in heterozygotes and wild types. Variants other than c.14576G>A were not associated with clinical phenotypes., Conclusions: The homozygous c.14576G>A variant in RNF213 could be a good DNA biomarker for predicting the severe type of MMD, for which early medical/surgical intervention is recommended, and may provide a better monitoring and prevention strategy.

Published
2012
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