VHL syndrome without clear family history: A rare case report and literature review of Chinese patients
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Published:2022-10-17
Issue:
Volume:13
Page:
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ISSN:1664-2295
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Container-title:Frontiers in Neurology
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language:
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Short-container-title:Front. Neurol.
Author:
Li Yaheng,Xin Xiaohong,Song Wenzhu,Zhang Xuan,Chen Shengli,Wang Qian,Li Aizhong,Li Yafeng
Abstract
ObjectiveTo analyze the clinical manifestations and imaging features of a hospitalized patient with intermittent headache who was finally diagnosed with von Hippel–Lindau (VHL) syndrome and to perform whole-exon gene detection to improve the understanding of the diagnosis and treatment strategies of the disease.MethodsA case of suspected VHL syndrome in Shanxi Provincial People's Hospital was analyzed. Proband DNA was also extracted for whole exome sequencing and screened for causative mutation sites, which were validated by Sanger sequencing. The literature about VHL gene mutations in Chinese patients in the past 10 years were also reviewed.ResultsThere is a heterozygous mutation site c.499C > G on the VHL gene on the short arm of chromosome 3 of the patient, which is a missense mutation. The mutation results in the substitution of arginine with glycine at amino acid 167 of the encoded protein, which may be primarily responsible for the disease in the patient with VHL syndrome. However, the mutation did not occur in other family members.ConclusionEarly recognition and treatment of VHL syndrome can be available with genetic testing technology. Strengthening the understanding of this complex genetic disease and improving the diagnostic rate of VHL syndrome are helpful for the precise treatment of patients with this disease, which may help prolong the survival time of patients to a certain extent and improve their quality of life.
Publisher
Frontiers Media SA
Subject
Neurology (clinical),Neurology
Reference50 articles.
1. Von Hippel-Lindau disease;Chittiboina;Handb Clin Neurol.,2015
2. Von Hippel-Lindau syndrome;Chou;Front Horm Res.,2013
3. Von Hippel-Lindau syndrome;Ben-Skowronek;Horm Res Paediatr.,2015
4. Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in Von Hippel Lindau syndrome54254
MurroV
LipperaM
MuccioloDP
CanuL
ErcolinoT
De FilpoG
34566400Mol Vis.272021
5. Phenotypic expression in Von Hippel-Lindau disease: correlations with germline Vhl gene mutations;Maher;J Med Genet.,1996