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
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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.)
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