ORIGINAL RESEARCH

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 RA
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 A. 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 Published online: 2018-04-16
|
  1. Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol. 2010; 63 (4): 607–41.
  2. Traupe H, Fischer J, Oji V. Nonsyndromic types of ichthyoses - an update. J Dtsch Dermatol Ges. 2014; 12 (2): 109–21.
  3. Wells RS, Kerr CB. Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. Br Med J. 1966; 1 (5493): 947–50.
  4. Oji V, Traupe H. Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol. 2006; 16 (4): 349–59.
  5. Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet. 2006; 38 (3): 337–42.
  6. Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP et al. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet. 2006; 38 (4): 441–6.
  7. Gruber R, Janecke AR, Fauth C, Utermann G, Fritsch PO, Schmuth M. Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris. Eur J Hum Genet. 2007; 15 (2): 179–84.
  8. Meng L, Wang L, Tang H, Tang X, Jiang X, Zhao J et al. Filaggrin gene mutation c.3321delA is associated with various clinical features of atopic dermatitis in the Chinese Han population. PLoS One. 2014; 9 (5): e98235.
  9. Maksimov VN, Kulikov IV, Semaev SE, Maksimova YuV, Prostyakova EM, Malyutina SK et al. Deletsiya 2282del4 v gene filaggrina v populyatsii zhiteley No-vosibirska i u bol'nykh vul'garnym ikhtiozom. Meditsinskaya genetika. 2007; 6 (8): 21–4.
  10. Karunas AS. Molekulyarno-geneticheskoe issledovanie allergicheskikh zabolevaniy [dissertatsiya]. Ufa: 2012.
  11. Zueva MI. Mutatsii R501X i 2282del4 gena FLG u bol'nykh allergodermatozami. Vіsnik Kharkіvs'kogo natsіonal'nogo unіversitetu іmenі V. N. Karazіna. Serіya: Bіologіya. 2011; 947 (13): 93–7.
  12. Amelina SS, Vetrova NV, Ponomareva TI, Amelina MA, El'chinova GI, Petrin AN et al. Populyatsionnaya genetika nasledstvennykh bolezney v 12 rayonakh Rostovskoy oblasti. Nozologicheskiy spektr monogennykh nasledstvennykh bolezney. Valeologiya. 2014; (2): 35–42.
  13. Zinchenko RA, Ginter EK. Osobennosti mediko-geneticheskogo konsul'tirovaniya v razlichnykh populyatsiyakh i etnicheskikh gruppakh. Meditsinskaya genetika. 2008; 7 (10): 20–9.
  14. Zinchenko RA, El'chinova GI, Ginter E. K. Faktory, opredelyayushchie rasprostranenie nasledstvennykh bolezney v rossiyskikh populyatsiyakh. Meditsinskaya genetika. 2009; 8 (12): 7–23.
  15. Zhivotovskiy LA. Populyatsionnaya biometriya. M.: Izd˗vo «Nauka»; 1991. 271 p.