A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures.
نویسندگان
چکیده
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.
منابع مشابه
A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome
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عنوان ژورنال:
- The Turkish journal of pediatrics
دوره 58 1 شماره
صفحات -
تاریخ انتشار 2016