Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review

Santoro, Claudia; Mirone, Giuseppe; Zanobio, Mariateresa; Ranucci, Giusy; D’Amico, Alessandra; Cicala, Domenico; Iascone, Maria; Bernardo, Pia; Piccolo, Vincenzo; Ronchi, Andrea; Limongelli, Giuseppe; Carotenuto, Marco; Nigro, Vincenzo; Cinalli, Giuseppe; Piluso, Giulio

doi:10.3390/ijms23168952

Cited by 4 publications

(1 citation statement)

References 54 publications

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“…The pathogenesis of Moyamoya vasculopathy is not yet completely elucidated, and in NF1, certainly independent of the type of germline mutations in NF1 [72]. However, modifier genes such as MRVI1 and RNF213 were recently suggested to have a potential synergistic effect [73][74][75].…”

Section: Vascular Diseasesmentioning

confidence: 99%

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations

Peduto

Zanobio

Nigro

et al. 2023

Cancers

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Neurofibromatosis type 1 (NF1) is an autosomal dominant condition, with a birth incidence of approximately 1:2000–3000, caused by germline pathogenic variants in NF1, a tumor suppressor gene encoding neurofibromin, a negative regulator of the RAS/MAPK pathway. This explains why NF1 is included in the group of RASopathies and shares several clinical features with Noonan syndrome. Here, we describe the main clinical characteristics and complications associated with NF1, particularly those occurring in pediatric age. NF1 has complete penetrance and shows wide inter- and intrafamilial phenotypic variability and age-dependent appearance of manifestations. Clinical presentation and history of NF1 are multisystemic and highly unpredictable, especially in the first years of life when penetrance is still incomplete. In this scenario of extreme phenotypic variability, some genotype–phenotype associations need to be taken into consideration, as they strongly impact on genetic counseling and prognostication of the disease. We provide a synthetic review, based on the most recent literature data, of all known genotype–phenotype correlations from a genetic and clinical perspective. Molecular diagnosis is fundamental for the confirmation of doubtful clinical diagnoses, especially in the light of recently revised diagnostic criteria, and for the early identification of genotypes, albeit few, that correlate with specific phenotypes.

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Section: Vascular Diseasesmentioning

confidence: 99%

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations

Peduto

Zanobio

Nigro

et al. 2023

Cancers

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Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease

Nomura,

Akagawa,

Yamaguchi

et al. 2023

Transl. Stroke Res.

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Common Inducing Factors of Ischemic Events Occurred in Pediatric with Ischemic Moyamoya Disease

Chen,

Gao,

Tang

et al. 2023

Preprint

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Objective: This study aims to investigate the inducing factors that cause ischemic events and summarize the clinical features between TIA and infarction in pediatrics with ischemic MMD. Methods: A retrospective analysis was conducted from September 2015 to September 2021 in-patients and out-patients admitted to Xiangya Hospital of Central South University. Results: The results indicated that 74.1% (63/85) of patients had obvious inducing factors before the ischemic attack, among which fever accounted for 41.3% (26/63). TIA patients with obvious inducing factors accounted for 83.3% (25/30) cases, and cerebral infarction patients with obvious inducing factors accounted for 69.1% (38/55). The inducing factorof fever is significantly higher in patients with infarction than in those with TIA (p=0.0023). The inducing factors of crying (p=0.0006) and consumption of irritating foods (p=0.0018) are significantly higher in patients with TIA than infarction. The age was younger in patients with infarction than TIA (8.8 ± 0.7 vs 5.8 ± 0.5, p=0.0011). The infarctions were more common in patients with PCA involvement than in patients present with TIA (p=0.0044). Multivariate analysis revealed that crying (p= 0.002) was independently associated with TIA. Conclusions: The occurrence of ischemic events in children with ischemic MMD tends to be associated with a clear inducing factor. Fever is more common in causing cerebral infarction, while crying and eating irritating foods are easy to cause TIA. Crying was identified as an independent risk factor for inducing TIA. The patients present with infarction are associated with younger age and PCA involvement in pediatric ischemic MMD.

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Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review

Cited by 4 publications

References 54 publications

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations

Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease

Common Inducing Factors of Ischemic Events Occurred in Pediatric with Ischemic Moyamoya Disease

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