A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures.
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.
['Bekircan-Kurt|Can Ebru|CE|', 'Şimşek-Kiper|Pelin Özlem|PÖ|', 'Boduroğlu|Koray|K|', 'Dericioğlu|Neşe|N|']
D000015:Abnormalities, Multiple D000293:Adolescent D004268:DNA-Binding Proteins D004569:Electroencephalography D004827:Epilepsy D005145:Face D006402:Hematologic Diseases D006579:Heterozygote D006801:Humans D008297:Male D009154:Mutation D009363:Neoplasm Proteins D015837:Vestibular Diseases
MLL2 Kabuki syndrome EEG epilepsy novel genetic mutation