MUTASYONDAN KLİNİĞE RETT SENDROMU

Abstract

Rett sendromu ilerleyici seyir gösteren, genetik temeli olan nörolojik bir hastalıktır. X’e bağlı dominant kalıtım modeline sahip olan hastalık çoğunlukla kız çocuklarda ortaya çıkmaktadır. Kızlarda gözlenen mental retardasyon nedenleri arasında Down sendromundan sonra ikinci sırada geldiği kabul edilmektedir. Genellikle doğum ve sonrasındaki 6-18. aylık süreçte normal gelişim gösteren çocuklarda hastalık zamanla gelişen mikrosefali, psikomotor gerilik ve amaçsız el hareketleriyle kendini gösterir. Sendromda otistik bulgulara sıkça rastlanılması bu sendromu birçok hastalığın ayırıcı tanısında daha çok gündeme getirmeye başlamıştır. Bu derleme Rett sendromunun moleküler temelindeki son gelişmelerden yola çıkarak etyolojiyle klinik tablo arasındaki ilişkiyi değerlendirmek amacıyla ele alınmıştır.

Keywords

• Rett sendromu, MECP2, CDKL5, X-dominant

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