A Novel De Novo Mutation Involving the Mll2 Gene in a Kabuki Syndrome Patient Presenting with Seizures
Tarih
2016Yazar
Bekircan-Kurt, Can Ebru
Simsek-Kiper, Pelin Ozlem
Boduroglu, Koray
Dericioglu, Nese
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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