Novel Mutation chrX:110644366 C>A of the DCX Gene in 4-year-old Girl with Sporadic Double Cortex Syndrome

CASE REPORT
Natalia A. Shnayder, PhD, ScD¹*; Ivan P. Artyukhov, PhD, ScD¹; Ekaterina V. Egorova¹; Diana V. Dmitrienko, PhD, ScD¹; Olga S. Shilkina¹; Alexander A. Molgachev²

¹V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, ²S.M. Berezin Medical-Diagnostics Center of the International Institute of Biological Systems; Krasnoyarsk, the Russian Federation

*Corresponding author:  Prof. Natalia A. Shnayder, PhD, ScD; Head of the Neurological Center of Epileptology, Neurogenetics and Brain Research of the University Clinic of V.F. Voino-Yasenetsky Krasnoyarsk State Medical University;  Krasnoyarsk, the Russian Federation.  E-mail: nataliashnayder@gmail.com

Published: March 17, 2017.  doi: 10.21103/Article7(1)_CR2

Abstract: 

Subcortical band heterotopia (SBH), also known as double cortex syndrome (DC), is listed as a "rare disease" by the Genetic and Rare Diseases Information Center of the National Institutes of Health with an incidence of 1 to 200,000 people in the population.  The cause of the disease is mutation in the DCX gene (also known as DBCN, XLIS) on chromosome Xq22.3-q23. SBH is an X-linked dominant disorder. Traditionally, genetic testing for SBH has been done in the order of the probability of detection of mutation according to the radiologic features, but the success rate could be variable with this time-consuming approach.
In this study, novel mutation chrX: 110644366C>A in the DCX gene was identified in a 4-year-old Russian girl with sporadic SBH. The present report demonstrates that whole-exome sequencing may be a useful tool for the identification of previously known and de novo mutations in children with SBH as well as malformations of cortical development.

Keywords: 
Double cortex syndrome ● absence seizures ● DCX gene ● de novo mutations
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International Journal of Biomedicine. 2017;7(1):67-70. © 2017 International Medical Research and Development Corporation. All rights reserved