medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLCmedgen-328Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASEThe description of the clinical case of KBG-syndrome caused by previously not described mutation in the ANKRD11 geneАкимоваИ. А.AkimovaI. A.akimova@geno-med.ruДадалиЕ. Л.DadaliE. L.noemail@neicon.ruКоростелевС. А.KorostelevS. A.noemail@neicon.ruХмельковаД. Н.KhemlkovaD. N.noemail@neicon.ruКоноваловФ. А.KonovalovF. A.noemail@neicon.ruФГБНУ «Медико-генетический научный центр»РоссияResearch Centre for Medical GeneticsRussian FederationООО «Геномед»РоссияGenomed LLCRussian Federation2017200220181694850Copyright © Акимова И.А., Дадали Е.Л., Коростелев С.А., Хмелькова Д.Н., Коновалов Ф.А., 20182018Акимова И.А., Дадали Е.Л., Коростелев С.А., Хмелькова Д.Н., Коновалов Ф.А.Akimova I.A., Dadali E.L., Korostelev S.A., Khemlkova D.N., Konovalov F.A.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/328

КBG - редкий наследственный синдром с аутосомно-доминантным типом наследования, характеризующийся сочетанием умственной отсталость с множественными дизморфическими чертами строения. Нами представлено описание девочки двух лет с синдромом KBG, обусловленным вновь выявленной мутацией с.2398_2401delGAAA (p.Glu800fs) в гетерозиготном состоянии в гене ANKRD11 . На основании собственного наблюдения и литературных данных суммированы клинико-генетические характеристики синдрома KBG.

KBG is a rare hereditary syndrome with an autosomal dominant type of inheritance, characterized by a combination of mental retardation and multiple dysmorphic features. We present the description of a 2 year old girl with a KBG syndrome caused by a newly identified mutation p.2398_2401delGAAA (p.Glu800fs) in the heterozygous state, in the ANKRD11 gene. Based on their own observation and literature data, the clinical and genetic characteristics of the KBG syndrome are summarized.

cиндром KBGумственная отсталостьдизморфические чертыген ANKRD11KBG syndromemental retardationdysmorphic featuresANKRD11 geneReferencesHerrmann J, Pallister PD, Tiddy et al. The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig. Art. Ser. XI(5): 7-18, 1975.Herrmann J, Pallister PD, Tiddy et al. The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig. Art. Ser. XI(5): 7-18, 1975.Sirmaci A, Spiliopoulos M, Brancati F at al. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am. J. Hum. Genet. 89: 289-294, 2011.Sirmaci A, Spiliopoulos M, Brancati F at al. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am. J. Hum. Genet. 89: 289-294, 2011.Miyatake S, Okamoto N, Stark Z. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. J Hum Genet. 2017 Mar 2.Miyatake S, Okamoto N, Stark Z. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. J Hum Genet. 2017 Mar 2.Murray N, Burgess B, Hay R at al. KBG syndrome: An Australian experience. Am J Med Genet A. 2017 Apr 27, p. 1 - 12.Murray N, Burgess B, Hay R at al. KBG syndrome: An Australian experience. Am J Med Genet A. 2017 Apr 27, p. 1 - 12.Low K, Ashraf T, Canham N at al. Clinical and genetic aspects of KBG syndrome. Am J Med Genet A. 2016 Nov; 170(11):2835-2846.Low K, Ashraf T, Canham N at al. Clinical and genetic aspects of KBG syndrome. Am J Med Genet A. 2016 Nov; 170(11):2835-2846.ACMG clinical laboratory standards for next-generation sequencing, Genetics in medicine, V. 15, Number 9, September 2013, p. 733-747.ACMG clinical laboratory standards for next-generation sequencing, Genetics in medicine, V. 15, Number 9, September 2013, p. 733-747.Walz K1, Cohen D, Neilsen PM et al. Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. Hum Genet. 2015 Feb;134(2):181-90. Epub 2014 Nov 21.Walz K1, Cohen D, Neilsen PM et al. Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. Hum Genet. 2015 Feb;134(2):181-90. Epub 2014 Nov 21.

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