medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.1234/XXXX-XXXX-2015-11-50-52medgen-72Research ArticleОПИСАНИЕ КЛИНИЧЕСКОГО СЛУЧАЯОписание клинического случая микроделеции 16p13.3 с проявлениями синдрома альфа-талассемии - умственной отсталости, выявленного методом хромосомного микроматричного анализаDescription of a clinical case 16p13.3 microdeletion with manifestations of alpha-thalassemia-mental retardation syndrome, identified during the chromosomal microarray (CMA) testingАнисимоваИ. В.AnisimovaI. V.noemail@neicon.ruКанивецИ. В.KanivetsI. V.noemail@neicon.ruФедеральное государственное бюджетное научное учреждение «Медико-генетический научный центр»РоссияResearch Centre of Medical GeneticsRussian Federation20151606201614115052Copyright © Анисимова И.В., Канивец И.В., 20162016Анисимова И.В., Канивец И.В.Anisimova I.V., Kanivets I.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/72

Представлены результаты клинического и генетического обследования девочки 3,5 лет с синдромом альфа-талассемии - умственной отсталости, выявленным при проведении хромосомного микроматричного анализа. Приведены клинические варианты микроделеции 16p13.3, описанные в литературе.

ATR-16 syndrome is a rare genetic disorder in which affected individuals have a deletion of distal part of short arm of chromosome 16, which contains several adjacent genes. Symptoms include mental retardation, alpha thalassemia, a blood disorder characterized by reduced levels of functional hemoglobin, microcephaly and clubfoot. ATR-16 syndrome occurs as a spontaneous (de novo) event with no previous family history or if one of the parents has balanced chromosomal translocation that is inherited in an unbalanced manner. The article presents the results of a clinical and genetics examinations of a 3,5-year-old girl with ATR-16 syndrome identified during the chromosomal microarray (CMA) testing.

альфа-талассемияумственная отсталостьхромосомный микроматричный анализalpha-thalassemiamental retardationchromosomal microarray (CMA) testingReferencesArgentaro A., Yang J.C., Chapman L., Kowalczyk M.S., Gibbons R.J., Higgs D.R., Neuhaus D., Rhodes D. Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX // Proc. Natl. Acad. Sci. - 2007. - Vol. 104. - P. 11939-11944.Argentaro A., Yang J.C., Chapman L., Kowalczyk M.S., Gibbons R.J., Higgs D.R., Neuhaus D., Rhodes D. Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX // Proc. Natl. Acad. Sci. - 2007. - Vol. 104. - P. 11939-11944.Bezerra M.A., Araujo A.S., Phylipsen M., Balak D., Kimura E.M., Oliveira D.M., Costa F.F., Sonati M.F., Harteveld C.L. The deletion of SOX8 is not associated with ATR-16 in an HbH family from Brazil // Br. J. Haematol. - 2008. - Vol. 142. - P. 324-326.Bezerra M.A., Araujo A.S., Phylipsen M., Balak D., Kimura E.M., Oliveira D.M., Costa F.F., Sonati M.F., Harteveld C.L. The deletion of SOX8 is not associated with ATR-16 in an HbH family from Brazil // Br. J. Haematol. - 2008. - Vol. 142. - P. 324-326.Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J. et al. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16 // Hum. Mol. Genet. - 2001. - Vol. 10. - P. 339-352.Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J. et al. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16 // Hum. Mol. Genet. - 2001. - Vol. 10. - P. 339-352.Dietmar Pfeifer, Francis Poulat, Elke Holinski-Feder, Frank Kooy, Gerd Scherer. 2000. The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 Syndrome // Genomics. - 2000. - Vol. 63, №1. - P. 108-116.Dietmar Pfeifer, Francis Poulat, Elke Holinski-Feder, Frank Kooy, Gerd Scherer. 2000. The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 Syndrome // Genomics. - 2000. - Vol. 63, №1. - P. 108-116.Donnai D., Clayton-Smith J., Gibbons R.J., Higgs D.R. The non-deletion a thalassaemia/mental retardation syndrome. Further support for X linkage // J. Med. Genet. - 1991. - Vol. 28. - P. 742-745.Donnai D., Clayton-Smith J., Gibbons R.J., Higgs D.R. The non-deletion a thalassaemia/mental retardation syndrome. Further support for X linkage // J. Med. Genet. - 1991. - Vol. 28. - P. 742-745.Douglas R. Higgs. The molecular basis of a-thalassemia.// Cold Spring Harb Perspect Med. - 2013. - №1. - P. 11-26.Douglas R. Higgs. The molecular basis of a-thalassemia.// Cold Spring Harb Perspect Med. - 2013. - №1. - P. 11-26.European Polycystic Kidney Disease Consortium. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16 // Cell. - 1994. - Vol. 77. - P. 881-894.European Polycystic Kidney Disease Consortium. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16 // Cell. - 1994. - Vol. 77. - P. 881-894.Eustermann S., Yang J.C., Law M.J., Amos R., Chapman L.M., Jelinska C., Garrick D., Clynes D., Gibbons R.J., Rhodes D. et al. 2011. Combinatorial readout of histone H3 modifications specifies localization of ATRX to heterochromatin // Nat. Struct. Mol. Biol. - 2011. - Vol. 18. - P. 777-782.Eustermann S., Yang J.C., Law M.J., Amos R., Chapman L.M., Jelinska C., Garrick D., Clynes D., Gibbons R.J., Rhodes D. et al. 2011. Combinatorial readout of histone H3 modifications specifies localization of ATRX to heterochromatin // Nat. Struct. Mol. Biol. - 2011. - Vol. 18. - P. 777-782.Gibbons R.J., Suthers G.K., Wilkie A.O.M., Buckle V.J., Higgs D.R. X-linked a thalassemia/mental retardation (ATR-X) syndrome: Localisation to Xq12-21.31 by X-inactivation and linkage analysis // Am. J. Hum. Genet. - 1992. - Vol. 51. - P. 1136-1149.Gibbons R.J., Suthers G.K., Wilkie A.O.M., Buckle V.J., Higgs D.R. X-linked a thalassemia/mental retardation (ATR-X) syndrome: Localisation to Xq12-21.31 by X-inactivation and linkage analysis // Am. J. Hum. Genet. - 1992. - Vol. 51. - P. 1136-1149.Gibbons R.J., Wilkie A.O.M., Weatherall D.J., Higgs D.R. A newly defined X linked mental retardation syndrome associated with a thalassaemia // J. Med. Genet. - 1991. - Vol. 28. - P. 729-733.Gibbons R.J., Wilkie A.O.M., Weatherall D.J., Higgs D.R. A newly defined X linked mental retardation syndrome associated with a thalassaemia // J. Med. Genet. - 1991. - Vol. 28. - P. 729-733.Gibson W.T., Harvard C., Qiao Y., Somerville M.J., Lewis M.E.S., Rajcan-Separovic E. Phenotype-genotype characterization of a-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3 // Am. J. Med. Genet. - 2008. - Vol. 146A. - P. 225-232.Gibson W.T., Harvard C., Qiao Y., Somerville M.J., Lewis M.E.S., Rajcan-Separovic E. Phenotype-genotype characterization of a-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3 // Am. J. Med. Genet. - 2008. - Vol. 146A. - P. 225-232.Sevim Balci, Mehmet Ali Ergun, E. Berrin Yuksel-konuk, Oliver Bartsch. Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report // Turkish J. of Pediatrics. - 2008. - Vol. 50. - P. 265-268.Sevim Balci, Mehmet Ali Ergun, E. Berrin Yuksel-konuk, Oliver Bartsch. Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report // Turkish J. of Pediatrics. - 2008. - Vol. 50. - P. 265-268.Villegas A.1, Ropero P., Gonzаlez F.A., Anguita E., Espinоs D. The thalassemia syndromes: molecular characterization in the Spanish population // Hemoglobin. - 2001. - Vol. 25, №3 - P. 273-283.Villegas A.1, Ropero P., Gonzаlez F.A., Anguita E., Espinоs D. The thalassemia syndromes: molecular characterization in the Spanish population // Hemoglobin. - 2001. - Vol. 25, №3 - P. 273-283.Weatherall D.J., Higgs D.R., Bunch C., Old J.M. et al. Haemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? // N. Eng. J. Med. - 1981. - Vol. 305, №11. - P. 607-612.Weatherall D.J., Higgs D.R., Bunch C., Old J.M. et al. Haemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? // N. Eng. J. Med. - 1981. - Vol. 305, №11. - P. 607-612.

The authors declare that there are no conflicts of interest present.