Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation
Abstract
:1. Introduction
2. Experimental Section
2.1. Data Collection
2.2. Statistical Analysis
3. Results
3.1. Review of the Literature
3.1.1. Genotype vs. Clinical Phenotype
3.1.2. Genotype vs. Biochemical Phenotype
3.1.3. Genetic Predictions
3.2. Raw Data Mining
3.2.1. Impact of the Variant Location on the MKAD Subtypes
3.2.2. Impact of MVK Genotypes on MKAD Subtypes
3.2.3. Impact of MVK Genotypes on Severe MKD Manifestations
3.2.4. Impact of Non-MVK Variants on the Phenotype
4. Discussion
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Target | Observation | Lesson |
---|---|---|
Clinical care | Measurement of IgD | To be dropped |
Mevalonic aciduria | Elevated, but anecdotally normal | |
Amyloidosis | Rare but does exist as in any other hereditary recurrent fevers | |
Phenotype genotype correlation | In Silico prediction tools | Helpful, but no strict correlation |
“Mild” p.(Val3777Ile) compound heterozygous or homozygous state | Also found in severe MKD, although anecdotally | |
p.(Leu264Phe) or p.(Ala334Thr) homozygosity | High risk of severe ocular or neurological manifestations | |
p.(Leu264Phe) homozygosity | 100% association with cataract (early ophthalmological test recommended?) | |
MKAD-PK | Specific range of pathogenic variants (frameshifts). Poor overlap (glycines) with systemic forms. Second mutation to search in cutaneous lesions |
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Boursier, G.; Rittore, C.; Milhavet, F.; Cuisset, L.; Touitou, I. Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation. J. Clin. Med. 2021, 10, 1552. https://doi.org/10.3390/jcm10081552
Boursier G, Rittore C, Milhavet F, Cuisset L, Touitou I. Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation. Journal of Clinical Medicine. 2021; 10(8):1552. https://doi.org/10.3390/jcm10081552
Chicago/Turabian StyleBoursier, Guilaine, Cécile Rittore, Florian Milhavet, Laurence Cuisset, and Isabelle Touitou. 2021. "Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation" Journal of Clinical Medicine 10, no. 8: 1552. https://doi.org/10.3390/jcm10081552
APA StyleBoursier, G., Rittore, C., Milhavet, F., Cuisset, L., & Touitou, I. (2021). Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation. Journal of Clinical Medicine, 10(8), 1552. https://doi.org/10.3390/jcm10081552