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 Key Takeaways
🎯
Objective & Hypothesis:Kabuki syndrome is a rare multiple congenital anomaly disorder.
📊
Key Findings & Data:Here we report on a 18-year-old Turkish male patient who was diagnosed previously as Kabuki syndrome.
💡
Conclusion & Impact: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.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
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.
🔖
Cite This Article
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
Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 1981; 99: 565-569
Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 1981; 99: 570-573
Niikawa N, Kuroki Y, Kajii T, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients. Am J Med Genet 1988; 31: 565-589
Adam MP, Hudgins L. Kabuki syndrome: A review. Clin Genet 2005; 67: 209-219
Kara B, Kayserili H, Imer M, Caliskan M, Ozmen M. Quadrigeminal cistern arachnoid cyst in a patient with kabuki syndrome. Pediatr Neurol 2006; 34: 478-480
Mihci E, Tacoy S, Haspolat S, Karaali K. Central nervous system abnormalities in kabuki (niikawa-kuroki) syndrome. Am J Med. Genet 2002; 111: 448-449
Tekin M, Fitoz S, Arici S, Cetinkaya E, Incesulu A. Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities. Int J Pediatr Otorhinolaryngol 2006; 70: 885-889
Rosti RO, Kayserili H. Kabuki make-up syndrome with unilateral renal agenesis. Turk J Pediatr 2009; 51: 298-300
Banka S, Veeramachaneni R, Reardon W, et al. How genetically heterogeneous is kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. Eur J Hum Genet 2012; 20: 381-388
Miyake N, Mizuno S, Okamoto N, et al. KDM6A point mutations cause Kabuki syndrome. Hum Mutat 2013; 34: 108-110
Miyake N, Koshimizu E, Okamoto N, et al. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet Part A 2013; 161A: 2234-2243
Schrander-Stumpel C, Meinecke P, Wilson G, et al. The Kabuki (Niikawa-Kuroki) syndrome: Further delineation of the phenotype in 29 non-japanese patients. Eur J Pediatr 1994; 153: 438-445
Ogawa A, Yasumoto S, Tomoda Y, Ohfu M, Mitsudome A, Kuroki Y. Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy. J Child Neurol 2003; 18: 549-551
Lodi M, Chifari R, Parazzini C, et al. Seizures and EEG pattern in Kabuki syndrome. Brain Dev 2010; 32: 829-834