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Blau by Genotype

Updated: Dec 3, 2019

Blau by Genotype

Research examining Blau-related symptomatology by genetic variant raises interesting questions. While all mutations occur in the NOD2 gene, genetic testing identifies the specific mutation by providing patients with a series of letters and numbers that define their own specific version of Blau Syndrome.

Some of these NOD2 variants are : R334W, R334Q, T606P, M513A, M513T, G481D, G464W, E383K, E383D, Y5635, C495Y, A755V

Research indicated that different variants may have different outcomes for patients. For example, Sarens et al. (2018) in Blau Syndrome -Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series published in the American Journal of Ophthalmology, conducted a 5 year longitudinal study with 50 participants with Blau Syndromeand concluded that "patients with p.R334w and p.R334Q had a significantly slower rate of visual acuity compared to other mutations combined”. This means that these two specific genotypes did not seem to suffer the effects of uveitis quite as badly when compared to the other genetic variants. These findings raise further questions; specifically, would further research determine if additional differences exist between genetic groups? Also, would different treatment options work better on specific genotypes? Furthermore, could and should some genotypes be categorised as their own separate condition? These questions highlight the need for a database of patients that examines genotype, current treatments and the efficacy results, among additional information. The Foundation is actively working with international partners and medical clinicians on the establishment of a protected database where data will provide the Blau community with current information regarding genotypes, associated symptomatology, and treatment effectiveness.


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