scholarly journals In SilicoPrediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency

2015 ◽  
Vol 79 (6) ◽  
pp. 451-459 ◽  
Author(s):  
Claire Browne ◽  
David J. Timson
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Kinase Gene ◽  
Mevalonate Kinase Gene

A Clinical Criterion to Exclude the Hyperimmunoglobulin D Syndrome (Mild Mevalonate Kinase Deficiency) in Patients with Recurrent Fever

2009 ◽  
Vol 36 (8) ◽  
pp. 1677-1681 ◽  
Author(s):  
OLIVIER STEICHEN ◽  
JEROEN van der HILST ◽  
ANNA SIMON ◽  
LAURENCE CUISSET ◽  
GILLES GRATEAU
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Recursive Partitioning ◽  
Clinical Criterion ◽  
Recurrent Fever ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Single Patient ◽  
Kinase Gene ◽  
Mevalonate Kinase Gene

Objective.The hyperimmunoglobulin D syndrome (HIDS) is an autosomal recessive autoinflammatory disease caused by mutations in the mevalonate kinase gene. Our objective was to define a clinical criterion able to exclude HIDS without the need of genetic testing.Methods.A recursive partitioning algorithm was applied to derive the clinical criterion in 149 patients with genetic testing in a French laboratory, among whom 35 had HIDS. The criterion was validated in 93 patients with genetic testing in a Dutch laboratory, among whom 28 had HIDS.Results.The most discriminatory composite clinical criterion satisfied by all patients with HIDS in the derivation group was [onset age < 5 years old OR (joint pain during attacks AND length of attacks < 14 days)]. It had a sensitivity of 100% (95% confidence interval 88% to 100%) and a specificity of 28% (95% CI 17% to 40%) in the validation group. If genetic testing had been limited to patients fulfilling this criterion, 18 tests (19%) would have been avoided in this highly selected validation sample, without missing a single patient with HIDS.Conclusion.Even among patients already selected by expert physicians, this criterion could help prevent unnecessary genetic testing, which is resource- and time-consuming.

scholarly journals Cloning and Sequence Analysis of Mevalonate Kinase Gene (CnMVK) from Chamaemelum nobile

2016 ◽  
Vol 3 (11) ◽  
pp. 23-28 ◽  
Author(s):  
Xiangxiang Meng ◽  
Weiwei Zhang ◽  
Feng Xu ◽  
Jiaping Yan ◽  
Xiaomeng Liu ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Mevalonate Kinase ◽  
Kinase Gene ◽  
Chamaemelum Nobile ◽  
Mevalonate Kinase Gene

scholarly journals Dyslipidemia in adults and genetic polymorphism in the mevalonate kinase gene, a systematic review

2021 ◽  
Vol 10 (8) ◽  
pp. e36310817343
Author(s):  
Marcelo Cichocki ◽  
Regina Célia Poli-Frederico
Keyword(s):  
Systematic Review ◽  
Genetic Polymorphism ◽  
Adult Population ◽  
Hdl Cholesterol ◽  
Mevalonate Kinase ◽  
Exclusion Criteria ◽  
Kinase Gene ◽  
Genetic Profiles ◽  
Mevalonate Kinase Gene

The presence of mutations in dyslipidemia-related genes is of great importance for the outcome of procedures on patients with elevated levels of HDL cholesterol. This systematic review aims to describe the genetic variants in the mevalonate kinase genes in adults with dyslipidemia. A systematic search of the following databases was conducted: Scopus, Web of Science, Google Scholar and Bireme, using the keywords: "Mevalonate Kinase Gene", "Dyslipidemia", "Genetic Polymorphism", linked using the term "AND". The inclusion criteria consisted of articles published between 2008 and 2018, written in Portuguese or English, while the exclusion criteria were the removal of duplicated articles, books, theses and bibliographic reviews, tests not conducted on humans, tests conducted on children and other genes evaluated. The articles listed in this review demonstrate the role of the genetic polymorphism of the mevalonate-kinase gene (MVK) in an adult population. A comparison of results from different studies is often complicated because of the diverse study variables such as: tests used, population studied. The studies described in this review demonstrated that there is an association between genetic profiles and dyslipidemia. Many studies have shown that, besides the external factors and individuals’ behavioral habits, the presence of mutations in the mevalonate kinase gene is associated with dyslipidemia.

scholarly journals Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation

2004 ◽  
Vol 13 (4) ◽  
pp. 510-512 ◽  
Author(s):  
Florian Hoffmann ◽  
Peter Lohse ◽  
Silvia Stojanov ◽  
Yoon S Shin ◽  
Ellen D Renner ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mevalonate Kinase ◽  
Kinase Gene ◽  
The Common ◽  
Mevalonate Kinase Gene

scholarly journals P03-007 - Mevalonate kinase gene in Behçet’s disease

2013 ◽  
Vol 11 (S1) ◽  
Author(s):  
D Arslan Tas ◽  
E Erken ◽  
F Yıldız ◽  
S Dinkçi ◽  
H Sakallı
Keyword(s):  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Mevalonate Kinase ◽  
Kinase Gene ◽  
Behcet's Disease ◽  
Mevalonate Kinase Gene
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