Mikrosefali ile İlişkili Genetik Faktörler, Genetic Disorders Associated with Microcephaly

Year 2020, , 95 - 99, 27.01.2020

Esra Kılıç

https://doi.org/10.12956/tchd.589256

Abstract

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.

Keywords

mikrosefali, zihinsel yetersizlik

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