Genetic-epidemiological study of pediatric population of Krasnohrad district of Kharkiv region

  • O. M. Fedota V. N. Karazin Kharkiv National University Ukraine, 61022, Kharkiv, Svobody sq., 4
  • Yu. O. Sadovnychenko V. N. Karazin Kharkiv National University, Ukraine, 61022, Kharkiv, Svobody sq., 4; Kharkiv National Medical University, Ukraine, 61022, Kharkiv, Nauki ave., 4
  • N. V. Movchan V. N. Karazin Kharkiv National University, Ukraine, 61022, Kharkiv, Svobody sq., 4; Communal Enterprise of Health Care «Krasnohrad Central District Hospital», Ukraine, 63304, Kharkiv region, Krasnohrad, Schindler str., 87
  • O. V. Kolodiazhnyi Communal Enterprise of Health Care «Krasnohrad Central District Hospital», Ukraine, 63304, Kharkiv region, Krasnohrad, Schindler str., 87
  • R. S. Dolzhenkova Communal Enterprise of Health Care «Krasnohrad Central District Hospital», Ukraine, 63304, Kharkiv region, Krasnohrad, Schindler str., 87
  • L. V. Roshcheniuk Communal Enterprise of Health Care «Regional Clinical Dispensary for Skin and Venereal Diseases No. 1», Ukraine, 61052, Kharkov, Blahovishchenska str., 17
  • I. M. Kasian Communal Enterprise of Health Care «Krasnohrad Central District Hospital», Ukraine, 63304, Kharkiv region, Krasnohrad, Schindler str., 87

Abstract

Aim. Study of genetic pathology burden, both monogenic and chromosomal, of pediatric population of Krasnohrad district of Kharkiv region. Methods. Epidemiological and clinical-genealogical methods have been used. The information on 252 patients aged 0– 17 years from all major sources of their registration has been analyzed. Results. The monogenic pathology burden of pediatric population was 0.28 %, chromosomal disorders burden — 0.13 %, 0.41 % in total. There were 14 nosological forms of single-gene diseases, the most common ones were sensorineural hearing loss (1:1295), congenital glaucoma (1:3884), congenital hypothyroidism (1:3884), ichthyosis (1:3884). For the past ten years there was a change in the spectrum of single-gene pathology in pediatric population of Krasnohrad district. Chromosomal abnormalities in the area were represented by Down syndrome (1:868) and Prader-Willi syndrome (1:7767). Conclusions. The genetic pathology burden of the pediatric population of the Krasnohrad district of Kharkiv region, the spectrum of monogenic and chromosomal pathology, and prevalence of their individual nosological forms are comparable to those in most European countries.
Keywords: genetic pathology, prevalence, single-gene diseases, chromosomal disorders, Kharkiv region.

References

Genomics and Health in the Developing World / Ed. D. Kumar. New York: Oxford University Press, 2012. 1536 p. doi: 10.1093/med/9780195374759.001.0001

Emery and Rimoin’s Principles and Practice of Medical Genetics / Eds.: D. Rimoin, R. Pyeritz, B. Korf. New York: Academic Press, 2013. 4700 p.

Passarge E. Color Atlas of Genetics. New York, Stuttgart: George Thieme Verlag, 2018. 474 p. doi: 10.1055/b-005-148910

Amelina S. S., Vetrova N. V., Amelina M. A. et al. The load and diversity of hereditary diseases in four raions of Rostov oblast. Rus. J. Genet. 2014. Vol. 50(1). P. 82–90. doi: 10.11 34/S1022795414 010025

Friis R. H., Sellers T. A. Epidemiology for public health practice. Burlington, Mass.: Jones & Bartlett Learning. 2014. 804 p.

Rare Disease Registries in Europe. Orphanet Report Series. 2017. URL: http://www.orpha.net/orpha com/cahiers/docs/GB/Registries.pdf (Last accessed: 31.03.2018).

Huleyuk N., Tkach I., Zastavna D., Tyrka M. Can telomere shortening be the main indicator of nonviable fetus elimination? Molecular Cytogenetics. 2018. Vol. 11: 11. doi: 10.1186/s13039-018-0361-9

Makukh H. V. Algorithm of CFTR gene mutations molecular-genetic analysis for cystic fibrosis practical diagnosis. Laboratory diagnostics. 2011. No. 2 (56). P. 14–1 9. [in Ukrainian]

Lozynska M. R., Lozynskyy Y. S., Plawski A. et al. Familial adenomatous polyposis: age of onset and association with mutations of the APC gene in patients from West Ukraine. Biopolymers and Cell. 2017. Vol. 33(2). P. 102–115. doi: 10.7124/ bc.000948

Pichkur N. A., Olkhovich N. V., Gorovenko N. G. Lysosomal storage disease in Ukraine. Bulletin of problems in Biology and Medicine. 2017. Iss. 4, Vol. 2 (140). P. 14–1 9. [in Ukrainian]

Kravchenko S. A., Nechyporenko M. V., Livshits L. A. Origin of Dystrophin Gene Deletions in Duchenne and Becker Muscular Dystrophy Patients from Ukraine. Cytol. Genet. 2017. Vol. 51(3). P. 185–191. doi: 10.3103/S0095452717030057

Polinyk S. I., Rybchenko L. A., Klymenko S. V. et al. Association of genetic polymorphism with the mutation status of the BRCA1/2 genes in spontaneous breast cancer. Biopolymers and Cell. 2017. Vol. 33(5). P. 393–400. doi: 10.7124/ bc.000962

Fedota A. M., Ryzhko P. P., Vorontsov V. M. et al. Genetic-epidemiological study of small urban and rural populations in Kharkov region. Medytsyna sohodni i zavtra. 2010. No. 2–3 (47–48). P. 93–98 [in Russian].

On approval of list of rare (orphan) diseases: Order of Ministry of Healthcare of Ukraine 27.10.2014 No. 778. Official bulletin of Ukraine. 2014. No. 95. Art. 2755 [in Ukrainian].

Rozpodil postiinoho naselennia za stattiu ta vikom na 1 sichnia 2016 roku. Ekspres-vypusk vid 27.07.2016 No. 336 / Derzhstat. Holovne upravlinnia statystyky u Kharkivskii oblasti. URL: http:// velykoburluk-rda.kh.gov.ua/content/documents/353/ 35236/files/eks_chis_post_nas_01_01_16.doc (Last accessed: 31.03.2018) [in Ukrainian].

Baird P. A., Anderson T. W., Newcombe H. B., Lowry R. B. Genetic Disorders in Children and Young Adults: A Population Study. Am. J. Hum. Genet. 1988. Vol. 42(5). P. 677–693.

Krasnov M. V., Krasnov V. M., Savaskina E. N. et al. Epidemiology, ethnoterritorial, genetic features of some congenital diseases of the Chuvash Republic children. Vestnik Chuvashskogo universiteta. 2010. Vol. 3. P. 119–125 [in Russian].

Lenaers G., Hamel C., Delettre C. et al. Dominant optic atrophy. Orphanet J. Rare Dis. 2012. Vol. 7:46. doi: 10.1186/1750-1172-7-46

Vogt G., Szunyogh M., Czeizel A. E. Birth characteristics of different ocular congenital abnormalities in Hungary. Ophthalmic Epidemiol. 2006. Vol. 13(3). P. 159–166. doi: 10.1080/09286580600599465

Sheeladevi S., Lawrenson J. G., Fielder A. R., Suttle C. M. Global prevalence of childhood cataract: a systematic review. Eye. 2016. Vol. 30(9). P. 1160–1169. doi: 10.1038/eye.2016.156

Sampaolesi R., Zarate J., Sampaolesi J. R. The Glaucomas. Vol. I. Pediatric Glaucomas. Berlin, Heidelberg: Springer, 2009. 486 p. doi: 10.1007/978-3-540-69146-4

Sellmer L., Farschtschi S., Marangoni M. Non-optic glioma in adults and children with neurofibromatosis 1. Orphanet J. Rare Dis. 2017. Vol. 12:34. doi: 10.1186/s13023-017-0588-2

Zahnert T. The Differential Diagnosis of Hearing Loss. Dtsch. Arztebl. Int. 2011. Vol. 108(25). P. 433–444. doi: 10.3238/arztebl.2011.0433

Zerjav Tansek M. Z., Groselj U., Angelkova N. et al. Phenylketonuria screening and management in southeastern Europe — survey results from 11 countries. Orphanet J. Rare Dis. 2015. Vol. 10:68. doi: 10.1186/s13023-015-0283-0

Olivieri A. Epidemiology of Congenital Hypothyroidism. Thyroid Diseases in Childhood / Eds.: G. Bona, F. De Luca, A. Monzani. Cham: Springer, 2015. P. 53–63. doi: 10.1007/978-3-319-19213-0_6

Kotvitska A. A., Cherkashyna A. V. Research of the prevalence indicators of orphan diseases in Ukraine. Sotsialna farmatsiia: stan, problem ta perspektyvy: materialy nauk. sympoziumu u ramkakh VIII Nats. z’izdu farmatsevtiv Ukrainy (Kharkiv, 15–16 veresnia 2016). Kharkiv, 2016. P. 29–35. [in Ukrainian]

Wilson R. C., Nimkarn S., Dumic M. et al. Ethnicspecific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21 -hydroxylase deficiency. Mol. Genet. Metab. 2007. Vol. 90(4). P. 414–421. doi: 10.1016/j.ymgme.2006.12.005

Azemi M., Berisha M., Kolgeci S. et al. Acrodermatitis enteropathica. Med. Arh. 2012. Vol. 66(2). P. 137–139. doi: 10.5455/medarh.2012.66.137139

Brown S. J., Relton C. L., Liao H. et al. Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children. Br. J. Dermatol. 2009. Vol. 161(4). P. 884–889. doi: 10.1111/j.1365-2133.2009.09339.x

Materna-Kiryluk A., Jamsheer A., Wisniewska K. et al. Epidemiology of isolated preaxial polydactyly type I: Data from the Polish Registry of Congenital Malformations (PRCM). BMC Pediatrics. 2013. Vol. 13:26. doi: 10.1186/1471-2431-13-26

Dogba M. J., Rauch F., Douglas E., Bedos C. Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta. Health and Quality of Life Outcomes. 2014. Vol. 12:151. doi: 10.1186/s12955-014-0151-y

Kruegel J., Rubel D., Gross O. Alport Syndrome — Insights from basic and clinical research. Nat. Rev. Nephrol. 2013. Vol. 9(3). P. 170–178. doi: 10.1038/nrneph.2012.259

Azoury S. C., Reddy S., Shukla V., Deng X.-C. Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis. Int. J. Biol. Sci. 2017. Vol. 13(12). P. 1479–1488. doi: 10.7150/ijbs.22373

Kostyuchenko L. V. Diagnostic algorithm and medical support of patients with Wiskott-Aldrich syndrome. Perinatologiya i Pediatriya. 2015. No. 3(63). P. 66–70; doi 10.15574/PP.2015.63.66. [in Ukrainian]

Nielsen S. W., Ljungdalh P. M., Nielsen J. Maternal use of selective serotonin reuptake inhibitors during pregnancy is associated with Hirschsprung’s disease in newborns — a nationwide cohort study. Orphanet J. Rare Dis. 2017. Vol. 1:116. doi: 10.1186/s13023-017-0667-4

Trzeciak W. H., Koczorowski R. Molecular basis of hypohidrotic ectodermal dysplasia: an update. J. Appl. Genetics. 2016. Vol. 57(1). P. 51–61. doi: 10.1007/s13353-015-0307-4

Farrell P. M. The prevalence of cystic fibrosis in the European Union. J. Cystic Fibrosis. 2008. Vol. 7(5). P. 450–453. doi: 10.1016/j.jcf.2008.03.007

Poyhonen M., Kytölä S., Leisti J. Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland. J. Med. Genet. 2000. Vol. 37(8). P. 632–636. doi: 10.1136/jmg.37.8.632

Bliznetz E. A., Martsul D. N., Khorov O. G. Spectrum of the GJB2 mutations in Belarussian patients with hearing loss. Findings of pilot genetic screening of hearing impairment in newborns. Rus. J. Genet. 2014. Vol. 50(2). P. 191 –197. doi: 10.1134/ S1022795414020033

Zinchenko R. A., Osetrova A. A., Sharonova E. I. Hereditary deafness in Kirov oblast: Estimation of the incidence rate and DNA diagnosis in children. Rus. J. Genet. 2012. Vol. 48(4). P. 455–462. doi: 10.1134/S1022795412030131

Rastogi M. V., LaFranchi S. H. Congenital hypothyroidism. Orphanet J. Rare Dis. 2010. Vol. 5:17. doi: 10.1186/1750-1172-5-17

Osadchuk Z. V., Hnateiko O. Z., Kitsera N. I. et al. Dynamika vyiavlennia vrodzhenoho hipotyreozu u Zakhidnykh oblastiakh Ukrainy za 2006–2009 roky. Zhinochyi likar. 2010. No. 2. P. 38–40. [in Ukrainian]

Al-Jurayyan N. A. M., Osman H. A. The increased prevalence of congenital adrenal hyperplasia in Saudi Arabia: the role of consanguinity and multiple sibling involvement. Eur. J. Res. Med. Sci. 2015. Vol. 3(1). P. 31–34.

Grechanina O. Ya., Lisovyi V. M., Budreiko O. A. et al. Adrenohenitalnyi syndrom u ditei: neonatalnyi skryninh, diahnostyka i likuvannia: metod. rekom. Kharkiv: 2013. 44 p. [in Ukrainian]

Sukalo A. V., Zhidko L. B., Lazar E. A. Vrozhdennyj ihtioz u detej. Minsk: Belarus. navuka, 2013. 70 p. [in Russian]

Teeuw M. E., Loukili G., Bartels E. A. C. et al. Consanguineous marriage and reproductive risk: attitudes and understanding of ethnic groups practising consanguinity in Western society. Eur. J. Human Genet. 2014. Vol. 22(4). P. 452–457. doi: 10.1038/ejhg.2013.167

Mitchell J. J., Trakadis Y. J., Scriver C. R. Phenylalanine hydroxylase deficiency. Genetics in Medicine. 2011. Vol. 13(8). P. 697–707. doi: 10.1097/GIM.0b013e3182141b48

Polvi A., Linturi H., Varilo T. et al. The Finnish disease heritage database (FinDis) update — a database for the genes mutated in the Finnish disease heritage brought to the next-generation sequencing era. Hum. Mutat. 2013. Vol. 34(11). P. 1458–1466. doi: 10.1002/humu.22389

Loane M., Morris J. K., Addor M. C. et al. Twentyyear trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. Eur. J. Human Genet. 2013. Vol. 21(1). P. 527–533. doi: 10.1038/ejhg. 2012.94

Popa C.-E., Ghiorghiţă G. Frequency of congenital malformations and chromosomal disorders in Bacau and Vaslui counties (Romania). J. Genet. 2015. Vol. 94(4). P. 661–668.

Õiglane-Shlik E., Talvik T., Žordania R. et al. Prevalence of Angelman Syndrome and Prader — Willi Syndrome in Estonian Children: Sister Syndromes Not Equally Represented. Am. J. Hum. Genet. 2006. Vol. 140A(18). P. 1936–1943. doi: 10.1002/ajmg.a.31423