A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures

作者：Bekircan Kurt Can Ebru; Simsek Kiper Pelin Ozlem; Boduroglu Koray; Dericioglu Nese^*

来源：Turkish Journal of Pediatrics, 2016, 58(1): 97-100.

DOI：10.24953/turkjped.2016.01.015

• Kabuki syndrome
• epilepsy
• EEG
• MLL2
• novel genetic mutation

Kabuki syndrome is a rare multiple congenital anomaly disorder. Although mental retardation is one of the main features, various neurological symptoms such as hypotonia and seizures can occur. Here we report on a 18-year-old Turkish male patient who was diagnosed previously as Kabuki syndrome. Molecular genetic analysis showed a novel de novo heterozygous mutation (c. 12964C>T [p.Gln4322*]) in the MLL2 gene, that leads to the synthesis of a truncated protein. The aim of the present report is to increase the awareness of Kabuki Syndrome among adult neurologists

• 出版日期2016-2