Mikrosefali ile İlişkili Genetik Faktörler, Genetic Disorders Associated with Microcephaly

ÖZET Mikrosefali bir hastalık değildir, bir klinik bulgudur ve öğrenme güçlüğü ile sıklıkla ilişkili olan azalmış intrakranyal beyin hacmini tahmin etmemizi sağlar. İntrauterin nöronal gelişimdeki anormal süreç primer mikrosefaliye sebep olur. Sekonder mikrosefali doğumdan sonra gelişir ve sıklıkla beyaz cevher hastalıkları ile ilişkilidir. Mikrosefalinin altında yatan etyolojik sebepler kompleks veya multifaktöriyel olabilir. Bu sebepler, anormal mitotik iplikcik yapısı, anormal sentrozomal protein yapısı, bozuk siliyer fonksiyon, bozuk DNA tamir mekanizması ve replikasyon bozukluklarını içerir. Biz burada primer konjenital ve sekonder gelişimsel mikrosefalinin genetik faktörlerini gözden geçireceğiz. ABSTRACT Microcephaly, is not a disease, is a clinical finding and a simple assessment of decreased intracranial brain volume which is frequently associated with intellectual disability. Abnormal developmental processes which affects in utero neuron development results primary microcephaly at birth. The secondary microcephaly develops after birth and mostly associated with white matter diseases. The underlying etiologies of microcephaly are complex and multifactorial. These include abnormal mitotic spindle structure, centrosomal protein abnormalities, impaired cilia function, damaged DNA repair mechanism and DNA replication. Here we overview the genetic factors of primer congenital and secondary developmental microcephaly.

Anahtar Kelimeler:

mikrosefali, zihinsel yetersizlik

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