MOLECULAR DIAGNOSTICS OF TUBEROUS SCLEROSIS


Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription Access

Abstract

Tuberous sclerosis is a hereditary disease of phakomatoses group, characterized by the development of multiple hamartomas of brain, eyes, skin and visceral organs. Diagnostics of tuberous sclerosis requires identification of pathogenic mutations within TSC1 or TSC2 genes. Here we present a description of clinical case of tuberous sclerosis followed by detection of the causative mutation.

Full Text

Restricted Access

About the authors

Grigoriy Arkadyevich Yanus

Saint-Petersburg State Pediatric Medical University

Email: octavedoctor@yandex.ru
resident doctor, Department of Medical Genetics

Yevgeniy Nikolayevic Suspitsyn

Saint-Petersburg State Pediatric Medical University

Email: vgeny.suspitsin@gmail.com
MD, PhD, Associate Professor

Marina Yuryevna Dorofeyeva

Moscow Institute of Pediatrics and Pediatric Surgery

Email: mdorofeeva@inbox.ru
MD, PhD, Senior Researcher Department of Psychoneurology and Epileptology

Yevgeniy Naumovich Imyanitov

Saint-Petersburg State Pediatric Medical University

Email: evgeny@imyanitov.spb.ru
PhD, Dr Med Sci, Prof., Head of the Department of Medical Genetics

References

  1. Au K-S., Williams A. T., Gambello M. J., Northrup H. Molecular Genetic Basis of Tuberous Sclerosis Complex: From Bench to Bedside // J. Child. Neurol. — 2004. — Vol. 19 — N.9 — P. 699–709.
  2. Camposano S. E., Greenberg E., Kwiatkowski D. J., Thiele E. A. Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified // Ann. Hum. Genet. — 2009 — Vol. 73 — N. 2 — P. 141–146.
  3. European Chromosome 16 Tuberous Sclerosis Consortium Identification and characterization of the tuberous sclerosis gene on chromosome 16 // Cell. — 1993. — Vol. 75 — N. 7 — P. 1305–1315.
  4. Griggs R. C., Batshaw M., Dunkle M. at al. Rare Diseases Clinical Research Network Clinical research for rare disease: opportunities, challenges, and solutions // Mol. Genet. Metab. — 2009. — Vol. 96, N.1 — P. 20–26.
  5. Hunt A., Lindenbaum R. H. Tuberous sclerosis: a new estimate of prevalence within the Oxford region // J. Med. Genet. — 1984. — Vol. 21, N. 4. — P. 272–277.
  6. Józwiak S., Schwartz R. A., Janniger C. K., Bielicka-Cymerman J. Usefulness of Diagnostic Criteria of Tuberous Sclerosis Complex in Pediatric Patients. // J. Child Neurol. — 2000. — Vol. 15, N. 10. — P. 652–659.
  7. Kohrman M. H. Emerging treatments in the management of tuberous sclerosis complex // Pediatr Neurol. — 2012. — Vol. 46, N. 5 — P. 267–275.
  8. Kozlowski P., Roberts P., Dabora S. et al. Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. // Hum. Genet. — 2007. — Vol. 121, N. 3–4. — P. 389–400.
  9. Leiden Open Varation Database, TSC1 (tuberous sclerosis 1) database URL: http://chromium.liacs.nl/LOVD2/TSC/home.php (состояние на 29.08.12).
  10. Osborne J. P., Fryer A., Webb D. Epidemiology of tuberous sclerosis. // Ann. NY Acad. Sci. — 1991. — Vol. 615. — P. 125–127.
  11. Qin W., Chan J. A., Vinters H. V. et al. Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events // Brain Pathol. — 2010. — Vol. 20, N. 6. — P. 1096–1105.
  12. Roach E. S., Gomez M. R., Northrup H. Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria // J. Child Neurol. — 1998. — Vol. 13, N. 12 — P. 624–628.
  13. Sancak O., Nellist M., Goedbloed M. et al. A Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype — phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. // Eur. J. Hum. Genet. — 2005. — Vol. 13, N. 6. — P. 731–741.
  14. Schwartz R. A., Fernandez G., Kotulska K., Jozwiak S. Tuberous sclerosis complex: advances in diagnosis, genetics, and management. // J. Am. Acad. Dermatol. — 2007. — Vol. 57, N. 2. — P. 189–202.
  15. Staley B. A., Vail E. A., Thiele E. A. Tuberous Sclerosis Complex: Diagnostic Challenges, Presenting Symptoms, and Commonly Missed Signs // Pediatrics. — 2011. — Vol. 127 — P. 117–125.
  16. Van Eeghen A. M., Black M. E., Pulsifer M. B. et al. Genotype and cognitive phenotype of patients with tuberous sclerosis complex // Eur. J. Hum. Genet. — 2012. Vol. 20 — N. 5 — P. 510–515.
  17. Van Slegtenhorst M., de Hoogt R., Hermans C. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34 // Science. — 1997. — Vol. 277, N. 5327. — P. 805–808.
  18. Young J., Povey S. The genetic basis of tuberous sclerosis // Mol. Med. Today. — 1998. — Vol. 4, N.7. — P. 313–319.
  19. Zoncu R., Efeyan A., Sabatini D. M. mTOR: from growth signal integration to cancer, diabetes and ageing // Nat. Rev. Mol. Cell Biol. — 2011. — Vol. 12, N.1. — P. 21–35.

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

Copyright (c) 2013 Yanus G.A., Suspitsyn Y.N., Dorofeyeva M.Y., Imyanitov Y.N.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
Регистрационный номер и дата принятия решения о регистрации СМИ: серия ПИ № ФС 77 - 69634 от 15.03.2021 г.