Öz
Kabuki make-up sendromu histon modifikasyonu yapan proteinleri kodlayan, dışa dönük aşağı lateral göz kapağı, kavisli seyrek dağınık kaşlar, uzun palpebral fissür, basık geniş burun, geniş öne doğru kulaklarla karakterize yüz; zihinsel yetersizlik, iskelet anomalileri, postnatal büyüme geriliği ve dermatoglifik anomalilerle karakterize nadir bir sendromdur. Xp11.23 kromozomunda yer alan <em>KDM6A</em> genindeki varyantların mutasyonu taşıyanlar KMS tip 2 olarak adlandırılmıştır. On dört yaşındaki hasta, ilişki kurmakta güçlük, hareketlilik ve öfke kontrol sorunu şikayetleriyle çocuk nörolojisi tarafından polikliniğimize yönlendirilmiştir. Hastanın dismorfik yüz belirtileri ile otizm spektrum bozukluğu (OSB) ve mental retardasyon tanıları olması nedeniyle yeni nesil genom dizileme uygulanmış, Xp11.3 kromozom bölgesinde bulunan <em>KMDA6A</em> geninde <em>de novo</em> mutasyon saptanmıştır. KMS tip 2 nadir genetik bir sendrom olmakla birlikte OSB ve bilişsel gelişimde gecikme ile klinik seyir göstermektedir. Bu olgu sunumu, çocuk psikiyatristlerinin KMS tip 2 farkındalığının artması, sendromu tanılamanın kolaylaşması, hasta takiplerinde eşlik eden komorbid durumlar ve eğitsel tedaviler için gerekli özel gereksinimlerini belirlemeleri açısından önem arzetmektedir.
Anahtar Kelimeler: Kabuki sendromu, otizm spektrum bozukluğu, KDM6A
Kaynakça
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