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

A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures. Turk J Pediatr. 2016;58(1):97-100 Authors: Bekircan-Kurt CE, Şimşek-Kiper PÖ, Boduroğlu K, Dericioğlu N Abstract 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. PMID: 27922244 [PubMed - in process]
Source: The Turkish Journal of Pediatrics - Category: Pediatrics Authors: Tags: Turk J Pediatr Source Type: research