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.
📌 3 Maddede Bu Makale
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Amaç & Hipotez:Kabuki syndrome is a rare multiple congenital anomaly disorder.
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Temel Bulgular & Veri:Here we report on a 18-year-old Turkish male patient who was diagnosed previously as Kabuki syndrome.
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Sonuç & Katkı: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.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri
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.
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Bu Makaleye Atıf Yap
ŞİMŞEK-KİPER, P. Ö., DERİCİOĞLU, N., BEKİRCAN-KURT, C. E., BODUROĞLU, K. (2022). A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures. Turkish Journal of Pediatrics, Cilt: 58 - Sayı: 1, 97–100. https://ajindex.com/articles/613184
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