The description of the clinical case of KBG-syndrome caused by previously not described mutation in the ANKRD11 gene
Abstract
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.
About the Authors
I. A. Akimova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
E. L. Dadali
Research Centre for Medical Genetics
Russian Federation
Russian Federation
S. A. Korostelev
Genomed LLC
Russian Federation
Russian Federation
D. N. Khemlkova
Genomed LLC
Russian Federation
Russian Federation
F. A. Konovalov
Genomed LLC
Russian Federation
Russian Federation
References
1. 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.
2. 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.
3. 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.
4. Murray N, Burgess B, Hay R at al. KBG syndrome: An Australian experience. Am J Med Genet A. 2017 Apr 27, p. 1 - 12.
5. 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.
6. ACMG clinical laboratory standards for next-generation sequencing, Genetics in medicine, V. 15, Number 9, September 2013, p. 733-747.
7. 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.
Review
For citations:
Akimova I.A., Dadali E.L., Korostelev S.A., Khemlkova D.N., Konovalov F.A. The description of the clinical case of KBG-syndrome caused by previously not described mutation in the ANKRD11 gene. Medical Genetics. 2017;16(9):48-50. (In Russ.)
Views:
1774
Email this article 