DOI: 10.24075/brsmu.2018.009


Prevalence of ichthyosis vulgaris and frequency of FLG R501x and 2282del4 mutations in the population of the Rostov region

Amelina SS1, Degtereva  EV1, Petrova NV2, Marakhonov AV3, Temnikov VE1, Petrina NE, Amelina MA4, Vetrova NV5, Ponomareva TI1, Zinchenko RA6
About authors

1 Rostov State Medical University, Rostov-on-Don, Russia

2 Research Centre for Medical Genetics, Moscow

3 Moscow Institute of Physics and Technology, Dolgoprudny, Russia

4 Ivanovsky Biology and Biotechnology Academy, Southern Federal University, Rostov-on-Don, Russia

5 Regenerative and Genetic Medical Center Genetico, Moscow, Russia

6 Pirogov Russian National Research Medical University, Moscow, Russia

Correspondence should be addressed: Rena Zinchenko
ul. Mosckvorechie 1, Moscow, 115478; ur.liam@oknehcnizaner

About paper

Funding: This study was partially supported by the Russian Science Foundation (Grant 17-15-01051).

Received: 2017-11-17 Accepted: 2018-02-10

Ichthyosis vulgaris (IV), a serious skin condition that runs in families, is actively studied worldwide. In this work we aimed to evaluate the prevalence of IV and frequency of two FLG mutations R501X and 2282del4 in the population of the Rostov region. Our genetic epidemiology study of hereditary monogenic disorders covered a total of 497,460 residents of 12 districts to identify 230 separate nosological entities. In the course of the analysis, we calculated the prevalence of IV per district and in the entire region and compared our findings with the results of earlier studies. The average prevalence of IV in the Rostov region was 1:5,025, which is consistent with the average prevalence of the disease across Russia (1:5,151). Tselinsky and Millerovsky districts demonstrated the highest prevalence rates (1:1,942 and 1:2,032, respectively). To evaluate the frequency of two FLG mutations R501X and 2282del4, we assayed the samples of 58 patients with IV and 127 healthy unelated controls by PCR followed by the restriction fragment length polymorphism analysis. In patients with IV, the frequency of the 2282del4 mutation was 48.28%, which is in line with European figures and also 30 times higher than in the controls (1.58%), suggesting the pathogenicity of the mutation. The R501X mutation was not identified both in patients with IV and healthy controls.

Keywords: ichthyosis vulgaris, mutations R501X and 2282del4, prevalence rates, Rostov region, FLG gene