Russian Journal of Child NeurologyRussian Journal of Child NeurologyРусский журнал детской неврологии2073-88032412-9178Publishing House ABV Press39910.17650/2073-8803-2022-17-2-55-60CLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯJacobsen syndrome. Literature review and a case reportСиндром Якобсена: обзор литературы и клиническое наблюдениеhttps://orcid.org/0000-0001-9487-4099SyrkinaA. V.СыркинаА. В.
Russian Federation

Alla Vladislavovna Syrkina

1 Shchukinskaya St., Moscow 123182

Алла Владиславовна Сыркина

123182 Москва, ул. Щукинская, 1

AllaSyrk@gmail.comhttps://orcid.org/0000-0002-7231-0249ChebanenkoN. V.ЧебаненкоН. В.
Russian Federation

Department of Pediatric Neurology

build. 1, 2/1 Barrikadnaya St., Moscow 125993

кафедра неврологии детского возраста

125993 Москва, ул. Баррикадная, 2 / 1, стр. 1

https://orcid.org/0000-0002-1401-5479ZykovV. P.ЗыковВ. П.
Russian Federation

Department of Pediatric Neurology

build. 1, 2/1 Barrikadnaya St., Moscow 125993

кафедра неврологии детского возраста

125993 Москва, ул. Баррикадная, 2 / 1, стр. 1

MikhailovaN. S.МихайловаН. С.
Russian Federation

build. 1, 18 / 1 Demyana Bednogo St., Moscow 123308

123308 Москва, ул. Демьяна Бедного, 18, корп. 1, стр. 1

V.I. Shumakov National Medical Research Center for Transplantation and Artificial Organs, Ministry of Health of RussiaФГБУ «Национальный медицинский исследовательский центр трансплантации и искусственных органов им. акад. В. И. Шумакова» Минздрава РоссииRussian Medical Academy of Postgraduate Education, Ministry of Health of RussiaФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава РоссииChildren’s City Polyclinic No. 94 branch No. 3ГБУЗ «Детская городская поликлиника № 94 филиал № 3»1504202217255601309202213092022Copyright ©; 2022, ABV-PressCopyright ©; 2022, АБВ-пресс2022ABV-PressАБВ-прессhttps://rjdn.abvpress.ru/jour/about/editorialPolicieshttps://rjdn.abvpress.ru/jour/article/view/399

The article presents a literature review of chromosomal deletion syndrome – terminal deletion of the long arm of chromosome 11, Jacobsen syndrome, manifested by skeletal abnormalities, congenital heart defects, developmental delay, autism. The disease is of clinical interest in connection with a specific phenotype and life-threatening, but potentially curable conditions: bleeding and immunodeficiency. The analysis of informationally significant genes of the chromosome 11 deletion site is presented. A case report of a girl with Jacobsen syndrome with a follow-up history of up to 6 years is presented. In the observed case, previously unremarked symptoms were described: ataxia and retropulsion. The differential diagnosis and criteria for hypomyelination syndrome are also analyzed. Recommendations are given for the management of life-threatening conditions in patients in accordance with American protocols.

В статье представлен обзор литературы, посвященной редкому хромосомному делеционному синдрому – терминальной делеции длинного плеча хромосомы 11, или синдрому Якобсена, проявляющемуся аномалиями развития скелета, врожденными пороками сердца, задержкой развития, аутизмом. Болезнь представляет клинический интерес в связи со специфическим фенотипом и жизнеугрожающими, но потенциально курабельными состояниями: кровотечениями и иммунодефицитом. Проведен анализ информационно значимых генов участка делеции хромосомы 11. Представлено клиническое наблюдение девочки с синдромом Якобсена с катамнезом до 6 лет. В наблюдаемом случае описаны ранее не упоминавшиеся в литературе симптомы: атаксия и ретропульсии. Также рассматриваются дифференциальная диагностика и критерии синдрома гипомиелинизации. Даны рекомендации по ведению жизнеугрожающих состояний при этом заболевании в соответствии с американскими протоколами.

Jacobsen syndromedeletion of the long arm of chromosome 11deletion 11q23hypomyelinationhemiparesisParis–Trousseau syndromeautismdevelopmental delayimmunodeficiencyсиндром Якобсенаделеция длинного плеча хромосомы 11делеция 11q23гипомиелинизациягемипарезсиндром Пэрис–Труссоаутизмзадержка психомоторного развитияиммунодефицит1. Akshoomoff N., Mattson S.N., Grossfeld P.D. Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. Genet Med 2015;17(2):143–8. DOI: 10.1038/gim.2014.86Akshoomoff N., Mattson S.N., Grossfeld P.D. Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. Genet Med 2015;17(2):143–8. DOI: 10.1038/gim.2014.862. Banzon T., Demirdag Y. Spectrum of immunodeficiencies in Jacobsen syndrome. Ann Allergy Asthma Immunol 2018;121(5):S94. DOI: 10.1016/j.anai.2018.09.307Banzon T., Demirdag Y. Spectrum of immunodeficiencies in Jacobsen syndrome. Ann Allergy Asthma Immunol 2018;121(5):S94. DOI: 10.1016/j.anai.2018.09.3073. Blazina Š., Ihan A., Lovrečić L., Hovnik T. 11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome. Am J Med Genet A 2016;170(12):3237–40. DOI: 10.1002/ajmg.a.37859Blazina Š., Ihan A., Lovrečić L., Hovnik T. 11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome. Am J Med Genet A 2016;170(12):3237–40. DOI: 10.1002/ajmg.a.378594. Chen S., Wang R., Zhang X. et al. Ultrasonographic findings and prenatal diagnosis of Jacobsen syndrome. Medicine (Baltimore) 2020;99(1). DOI: 10.1097/MD.0000000000018695Chen S., Wang R., Zhang X. et al. Ultrasonographic findings and prenatal diagnosis of Jacobsen syndrome. Medicine (Baltimore) 2020;99(1). DOI: 10.1097/MD.00000000000186955. Coldren C.D., Lai Z., Shragg P. et al. Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). Neurogenetics 2009;10(2):89–95. DOI: 10.1007/s10048-008-0157-xColdren C.D., Lai Z., Shragg P. et al. Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). Neurogenetics 2009;10(2):89–95. DOI: 10.1007/s10048-008-0157-x6. Dalm V.A., Grossfeld P., Paris K. Immunology protocol for patients with Jacobsen syndrome. Available at: https://www.11qusa.org/lifesaving-protocols.Dalm V.A., Grossfeld P., Paris K. Immunology protocol for patients with Jacobsen syndrome. Available at: https://www.11qusa.org/lifesaving-protocols.7. Dalm V.A., Driessen G.J.A., Barendregt B.H. et al. The 11q terminal deletion disorder Jacobsen syndrome is a syndromic primary immunodeficiency. J Clin Immunol 2015;35(8):761–8. DOI: 10.1007/s10875-015-0211-zDalm V.A., Driessen G.J.A., Barendregt B.H. et al. The 11q terminal deletion disorder Jacobsen syndrome is a syndromic primary immunodeficiency. J Clin Immunol 2015;35(8):761–8. DOI: 10.1007/s10875-015-0211-z8. Favier R., Akshoomoff N., Mattson S., Grossfeld P. Jacobsen syndrome: Advances in our knowledge of phenotype and genotype. Am J Med Genet C Semin Med Genet 2015;169(3):239–50. DOI: 10.1002/ajmg.c.31448Favier R., Akshoomoff N., Mattson S., Grossfeld P. Jacobsen syndrome: Advances in our knowledge of phenotype and genotype. Am J Med Genet C Semin Med Genet 2015;169(3):239–50. DOI: 10.1002/ajmg.c.314489. Grossfeld P. Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations. Am J Med Genet A 2017;173(3):667–70. DOI: 10.1002/ajmg.a.38032Grossfeld P. Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations. Am J Med Genet A 2017;173(3):667–70. DOI: 10.1002/ajmg.a.3803210. Grossfeld P. Clinical recommendations for 11q terminal deletion. Available at: https://chromosome11.org/en/research/publications/.Grossfeld P. Clinical recommendations for 11q terminal deletion. Available at: https://chromosome11.org/en/research/publications/.11. Grossfeld P., Mattina T., Lai Z. et al. The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet A 2004;129A(1):51–61. DOI: 10.1002/ajmg.a.30090Grossfeld P., Mattina T., Lai Z. et al. The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet A 2004;129A(1):51–61. DOI: 10.1002/ajmg.a.3009012. Haghi M., Dewan A., Jones K.L. et al. Endocrine abnormalities in patients with Jacobsen (11q-) syndrome. Am J Med Genet A 2004;129A(1):62, 63. DOI: 10.1002/ajmg.a.30248Haghi M., Dewan A., Jones K.L. et al. Endocrine abnormalities in patients with Jacobsen (11q-) syndrome. Am J Med Genet A 2004;129A(1):62, 63. DOI: 10.1002/ajmg.a.3024813. Jacobsen P., Hauge M., Henningsen K. et al. An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. Hum Hered 1973;23(6):568–85. DOI: 10.1159/000152624Jacobsen P., Hauge M., Henningsen K. et al. An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. Hum Hered 1973;23(6):568–85. DOI: 10.1159/00015262414. Jones C., Slijepcevic P., Marsh S. et al. Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. Hum Mol Genet 1994;3(12):2123–30. DOI: 10.1093/hmg/3.12.2123Jones C., Slijepcevic P., Marsh S. et al. Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. Hum Mol Genet 1994;3(12):2123–30. DOI: 10.1093/hmg/3.12.212315. Kruglov I.Y., Rumyantsev N.Y., Omarov G.G., Rumiantceva N.N. Treatment of congenital clubfoot in a patient with Jacobsen syndrome using Ponseti method: A case report. Pediatr Traumatol Orthop Reconstr Surg 2018;6(4):98–102. DOI: 10.17816/PTORS6498-102Kruglov I.Y., Rumyantsev N.Y., Omarov G.G., Rumiantceva N.N. Treatment of congenital clubfoot in a patient with Jacobsen syndrome using Ponseti method: A case report. Pediatr Traumatol Orthop Reconstr Surg 2018;6(4):98–102. DOI: 10.17816/PTORS6498-10216. Liao G.J.W., Gronowski A.M., Zhao Z. Non-invasive prenatal testing using cell-free fetal DNA in maternal circulation. Clin Chim Acta Int J Clin Chem 2014;428:44–50.Liao G.J.W., Gronowski A.M., Zhao Z. Non-invasive prenatal testing using cell-free fetal DNA in maternal circulation. Clin Chim Acta Int J Clin Chem 2014;428:44–50.17. Lukusa T., Fryns J.P. Human chromosome fragility. Biochim Biophys Acta 2008;1779(1):3–16. DOI: 10.1016/j.bbagrm.2007. 10.005Lukusa T., Fryns J.P. Human chromosome fragility. Biochim Biophys Acta 2008;1779(1):3–16. DOI: 10.1016/j.bbagrm.2007. 10.00518. Martínez de Arrieta C., Morte B., Coloma A., Bernal J. The human RC3 gene homolog, NRGN contains a thyroid hormone-responsive element located in the first intron. Endocrinology 1999;140(1): 335–43. DOI: 10.1210/endo.140.1.6461Martínez de Arrieta C., Morte B., Coloma A., Bernal J. The human RC3 gene homolog, NRGN contains a thyroid hormone-responsive element located in the first intron. Endocrinology 1999;140(1): 335–43. DOI: 10.1210/endo.140.1.646119. Mattina T., Perrotta C.S., Grossfeld P. Jacobsen syndrome. Orphanet J Rare Dis 2009;4:9. DOI: 10.1186/1750-1172-4-9Mattina T., Perrotta C.S., Grossfeld P. Jacobsen syndrome. Orphanet J Rare Dis 2009;4:9. DOI: 10.1186/1750-1172-4-920. Moore J.W., Davis C.K., El-Said H.G. et al. Protocol for patient with Jacobsen syndrome. Available at: https://www.11qusa.org/lifesaving-protocols.Moore J.W., Davis C.K., El-Said H.G. et al. Protocol for patient with Jacobsen syndrome. Available at: https://www.11qusa.org/lifesaving-protocols.21. Nakamura T., Arima-Yoshida F., Sakaue F. et al. PX-RICSdeficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABA A receptor trafficking. Nat Commun 2016;7(1):10861. DOI: 10.1038/ncomms10861Nakamura T., Arima-Yoshida F., Sakaue F. et al. PX-RICSdeficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABA A receptor trafficking. Nat Commun 2016;7(1):10861. DOI: 10.1038/ncomms1086122. Nasu-Nishimura Y., Hayashi T., Ohishi T. et al. Role of the Rho GTPase-activating protein RICS in neurite outgrowth. Genes Cells Devoted Mol Cell Mech 2006;11(6):607–14. DOI: 10.1111/j.1365-2443.2006.00966.xNasu-Nishimura Y., Hayashi T., Ohishi T. et al. Role of the Rho GTPase-activating protein RICS in neurite outgrowth. Genes Cells Devoted Mol Cell Mech 2006;11(6):607–14. DOI: 10.1111/j.1365-2443.2006.00966.x23. Penny L.A., Dell’Aquila M., Jones M.C. et al. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet 1995;(56):676–83.Penny L.A., Dell’Aquila M., Jones M.C. et al. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet 1995;(56):676–83.24. Sakkou M., Wiedmer P., Anlag K. et al. A role for brain-specific homeobox factor bsx in the control of hyperphagia and locomotory behavior. Cell Metab 2007;5(6):450–63. DOI: 10.1016/j.cmet.2007.05.007Sakkou M., Wiedmer P., Anlag K. et al. A role for brain-specific homeobox factor bsx in the control of hyperphagia and locomotory behavior. Cell Metab 2007;5(6):450–63. DOI: 10.1016/j.cmet.2007.05.00725. Ye M., Coldren C., Liang X. et al. Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. Hum Mol Genet 2010;19(4):648–56. DOI: 10.1093/hmg/ddp532Ye M., Coldren C., Liang X. et al. Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. Hum Mol Genet 2010;19(4):648–56. DOI: 10.1093/hmg/ddp532