N.M. MARYCHEVA¹, N.A. ZHUCHENKO¹, M.M. KOSTIK², A.A. BEME¹, Yu.Yu. KOTALEVSKAYA³, N.V. ZHURKOVA⁴, A.Yu. ASANOV¹

¹First Moscow State Medical University named after I.M. Sechenov, 8 Trubetskaya St., bld. 2, Moscow, Russian Federation, 119048

²Saint-Petersburg State Pediatric Medical University, 2 Litovskaya St., 2, Saint-Petersburg, Russian Federation, 194100

³Moscow scientific and research clinical institute named after M.F. Vladimirskiy, 61/2 Shchepkin St., Moscow, Russian Federation, 129110

⁴Scientific Centre of Children Health, 2 Lomonosovsky avenue, bld.1, Moscow, Russian Federation, 119991

Marycheva N.M. — postgraduate student of the Department of Medical Genetics, tel. +7-985-142-44-72, e-mail: maricheva.n@gmail.com

Zhuchenko N.A. — Cand. Med. Sc., Associate Professor of the Department of Medical Genetics, tel. +7-903-572-19-10, e-mail: zhychenko64@mail.ru

Kostik M.M. — Cand. Med. Sc., Associate Professor of the Department of Hospital Pediatrics, tel. +7-905-278-01-74, e-mail: kost-mikhail@yandex.ru

Beme A.A. — postgraduate student of the Department of Medical Genetics, tel. +7-917-575-59-45, e-mail: bubukun@mail.ru

Kotalevskaya Yu.Yu. — Cand. Med. Sc., clinical geneticist of medicogenetic laboratory, tel. +7-915-167-35-83, e-mail: kotalevskaya@mail.ru

Zhurkova N.V. — Cand. Med. Sc., senior associate, tel. (499) 134-14-45, e-mail: n1972z@yandex.ru

Asanov A.Yu. — D. Med. Sc., Professor, Head of the Department of Medical Genetics, tel. +7-916-196-15-98, e-mail: aliy@rambler.ru

The article describes a comparative analysis of family and sporadic cases of osteogenesis imperfect type I in a sample of 35 patients. A comparative analysis of the clinical signs and symptoms, as well as some clinical and laboratory data, showed no significant differences between family and sporadic cases of osteogenesis imperfecta neither in general clinical presentation nor in the symptoms variety. At the same time, the differences in the frequency characteristics of some clinically significant symptoms (time of onset, frequency of deformities of the lower extremities and altered height) can be considered as one of the possible factors of assessing the severity of osteogenesis imperfecta.

Key words: osteogenesis imperfecta, family cases, sporadic cases, clinical polymorphism.

REFERENCES

1. Byers P.H. Osteogenesis imperfecta. In: Royce PM, Steinmann B, eds. Connective tissue and its heritable disorders: molecular, genetic and medical aspects. New York. Wiley-Liss. 1992. Pp. 317-350.
2. Ben Amor I. Mouna, Glorieux Francis H., Rauch Frank. Genotype-Phenotype Correlations in Autosomal Dominant OsteogenesisImperfecta. Journal of Osteoporosis, 2011, p.9.
3. Pollitt R., McMahon R., Nunn J., Bamford R., Afiff A., Bishop N., Dalton A. Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesisimperfecta type I-IV. Human Mutation Mutation, 2006, vol. 27 (7), p. 716.
4. Kadurina T.I. Printsipy klinicheskoy diagnostiki nasledstvennykh kollagenopatiy [Principles of clinical diagnosis of hereditary kollagenopaty]. Saint Petersburg: SPbMAPO, 1999. 24 p.
5. Nadyrshina D.D. Epidemiologicheskoe i molekulyarno-geneticheskoe issledovanie nesovershennogo osteogeneza: avtoref. dis. … kand. biol. nauk [Epidemiological and molecular genetic study of osteogenesis imperfect. Synopsis of dis. PhD Byol. sci]. Ufa, 2011.
6. Willing M.C., Deschenes S.P., Scott D.A., Byers P.H., Slayton R.L., Pitts S.H. et al. Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles. Am J. Hum. Genet., 1994, vol. 55, pp. 638-647.
7. Rios D., Vieira A.L., Tenuta L.M., Machado M.A. Osteogenesis imperfect and dentinogenesis imperfect: Associated disorder. Quintessence Int., 2005, vol. 36, pp. 695-701.
8. Sillence D.O., Senn A., Danks D.M. Genetic heterogeneity in osteogenesis imperfect. Journal of Medical Genetics, 1979, vol. 16, rr. 101-116.
9. Paterson C.R., Monk E.A., McAllion S.J. How common is hearing impairment in osteogenesisimperfecta? J. Laryngol. Otol., 2001, vol. 115, pp. 280-282.
10. Kuurila K., Grénman R., Johansson R., Kaitila I. Hearing loss in children with osteogenesisimperfecta. Eur. J. Pediatr., 2000, vol. 159, pp. 515-519.