The Turkish Journal of Pediatrics 2016 , Vol 58 , Num 1
A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures
Can Ebru Bekircan-Kurt 1 ,Pelin Özlem Şimşek-Kiper 2 ,Koray Boduroğlu 2 ,Neşe Dericioğlu 1
1 Department of Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey
2 Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
DOI : 10.24953/turkjped.2016.01.015 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 and to present a previously unreported non-sense mutation in the MLL2 gene. Keywords : Kabuki syndrome, epilepsy, EEG, MLL2, novel genetic mutation
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