Investigation of germline <i>VHL</i> variants in Iranian patients with retinal capillary hemangioblastoma and genotype-phenotype analysis

Naseripour, Masood; Azimi, Fatemeh; Talebi, Said; Mirshahi, Reza; Kiaee, Reza; Sedaghat, Ahad; Zohre, Ataei Kachoei; Khakpour, Golnaz

doi:10.1080/13816810.2022.2138455

Cited by 2 publications

(1 citation statement)

References 32 publications

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“…The most common variants that affected the structure of a domain of the VHL protein (pVHL) were missense mutations. Also, the majority of mutations were located on a domain in patients with central nervous system hemangioblastoma and RCH ( 5 ).…”

Section: Discussionmentioning

confidence: 99%

Prevalence of Neurological Symptoms and Imaging Findings in Von Hippel–Lindau Patients Referred to Rasool Akram Hospital, 2018–2021

Javadi,

Hassan Habibi,

Sedaghat

et al. 2024

jkcvhl

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This study aimed to assess the prevalence of neurological symptoms and related imaging findings in patients with von Hippel-Lindau (VHL) at Rasool Akram Hospital from September 2018 to September 2021. This analytical observational study examined eligible patients over the period from September 2018 to September 2021. We collected demographic information (age, gender) along with imaging findings and results of neurological and eye examinations. Comparison between qualitative variables was also done using the Chi-square test or Fisher’s exact test. Also, an independent t-test was used to compare quantitative variables between the two groups. SPSS version 22 software was used for statistical analysis of data. A significant level was considered less than or equal to 0.05. Of the 54 examined patients (48.1% were male and 51.9% were female) with an average age of 36.42 ± 13.37 years. A significant majority (87.0%) reported a positive family history of the disease. The most common type of disease was Type 1 observed in 94.4% of cases and Type 2A was the next most frequent (3.7%). The most common pattern of retinal pathological lesions seen in the examination was related to bilateral lesions (79.6%). The most common pathological finding was related to the presence of a mass in cerebellar magnetic resonance imaging (48.1%). Considering the findings of the present study, which highlight a significant frequency of bilateral retinal lesions as well as masses in the central nervous system and endocrine system, it is evident that patients require careful follow-up and various interventions after being diagnosed with the dis-ease. This approach is essential to manage and potentially mitigate the complications associated with these conditions.

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Section: Discussionmentioning

confidence: 99%

Prevalence of Neurological Symptoms and Imaging Findings in Von Hippel–Lindau Patients Referred to Rasool Akram Hospital, 2018–2021

Javadi,

Hassan Habibi,

Sedaghat

et al. 2024

jkcvhl

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View full text Add to dashboard Cite

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The genetic differences between types 1 and 2 in von Hippel-Lindau syndrome: comprehensive meta-analysis

Azimi,

Naseripour,

Aghajani

et al. 2024

BMC Ophthalmol

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Background Patients with von Hippel-Lindau (VHL) disease are at risk of developing tumors in the eye, brain, kidney, adrenal gland, and other organs based on their gene mutations. The VHL tumor suppressor gene contains pathogenic variants responsible for these events. This meta-analysis aims to investigate the genetic differences among the various types of VHL syndrome and their correlation with the location of mutations (exons and domains) in the VHL gene. Method Papers eligible for publication until September 2023 were identified using the electronic databases of PubMed, Google Scholar, Scopus, and EMBASE. The Random Effect model was utilized to evaluate the genetic differences between type 1 and type 2 VHL syndromes. Results The prevalence of missense mutations (MSs) was found to be 58.9% in type 1, while it was 88.1% in type 2. Interestingly, the probability of observing MSs in type 1 was 0.42 times lower compared to type 2. The mutation hotspots of the VHL gene were R167Q/W, Y98H, R238W, and S65L, respectively. Although type 2 had a high presentation of Y98H and R238W, it did not have a higher S65L than type 1. The analysis demonstrated a statistically significant higher prevalence of truncated mutations (PTMs) in type 1. Among type 1, large/complete deletions (L/C DELs) were found in 16.9% of cases, whereas in type 2 only 3.7%. This difference was statistically significant with a p-value < 0.001. Overall, the probability of identifying mutations in domain 2 compared to domain 1 was found to be 2.13 times higher in type 1 (p-value < 0.001). Furthermore, the probability of detecting exon 1 in comparison with observing exon 2 in type 1 was 2.11 times higher than type 2 and revealed a statistically significant result (p-value < 0.001). The detection of exon 2 was 2.18 times higher in type 1 (p-value < 0.001). In addition, the likelihood of discovering exon 2 compared with others was significantly lower in type 1 compared with type 2 VHL (OR = 0.63, p-value = 0.015). Conclusions We have revealed a comprehensive genetic difference between types 1 and 2 of VHL syndrome. The significant differences in MS, PTMs, L/C DELs, and the location of the mutations between type 1 and type 2 VHL patients in the Asian, European, and American populations emphasize the genetic heterogeneity of the syndrome. These findings may pave the way for the diagnosis, treatment, and further investigation of the mechanisms behind this complex genetic disorder.

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Investigation of germline VHL variants in Iranian patients with retinal capillary hemangioblastoma and genotype-phenotype analysis

Cited by 2 publications

References 32 publications

Prevalence of Neurological Symptoms and Imaging Findings in Von Hippel–Lindau Patients Referred to Rasool Akram Hospital, 2018–2021

Prevalence of Neurological Symptoms and Imaging Findings in Von Hippel–Lindau Patients Referred to Rasool Akram Hospital, 2018–2021

The genetic differences between types 1 and 2 in von Hippel-Lindau syndrome: comprehensive meta-analysis

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