Mikrosefali ile İlişkili Genetik Faktörler, Genetic Disorders Associated with Microcephaly

Year 2020, Volume: 14 Issue: 1, 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

References

• 1. Opitz JM, Holt MC. Microcephaly: general considerations and aids to nosology. J Cranio fac Genet Dev Biol. 1990; 10: 175-204.
• 2. Woods CG, Parker A. Investigating microcephaly. Arch Dis Child. 2013; 98: 707-713.
• 3. Gilbert SL, Dobyns WB, Lahn BT. Genetic links between brain development and brain evolution. Nat Rev Genet. 2005; 6: 581-590.
• 4. Alcantara D, O'Driscoll M. Congenital microcephaly. Am J Med Genet C Semin Med Genet. 2014; 166C: 124-139.
• 5. Elçioğlu, H. Nursel; Salim, Mahmoud. Mikrosefali. Turkiye Klinikleri Journal of Pediatrical Sciences, 2013; 9: 39-46.
• 6. Abdel-Hamid MS, Ismail MF, Darwish HA, Effat LK, Zaki MS, Abdel-Salam GM. Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. Am J Med Genet Part A. 2016; 170: 2133-2140.
• 7. Thornton GK, Woods CG. Primary microcephaly: do all roads lead to Rome? Trends Genet. 2009; 25: 501-510.
• 8. He H, Liyanarachchi S, Akagi K, et al. Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science. 2011; 332: 238-240.
• 9. Rauch A. The shortest of the short: pericentrin mutations and beyond. Best Pract Res Clin Endocrinol Metab. 2011; 25: 125-130.
• 10. Willems M, Geneviève D, Borck G, et al. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J MedGenet. 2010; 47: 797-802.
• 11. Ütine GE, Şimşek-Kiper PÖ, Boduroğlu K. Mikrodelesyon sendromları. Çocuk Sağlığı ve Hastalıkları Dergisi 2012; 55: 42- 51.
• 12. Schrier SA, Sherer I, Deardorff MA, et al. Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. Am J Med Genet A. 2011; 155: 3007-3024.
• 13. DeMunnik SA, Bicknell LS, Aftimos S, et al. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet. 2012; 20: 598-606.
• 14. Kato M, Dobyns WB. Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet 2003; 12: 89-96.
• 15. Hennekam RC. Rubinstein-Taybi syndrome. Eur J Hum Genet. 2006; 14: 981-985.
• 16. Ashwal S, Michelson D, Plawner L, Dobyns WB; Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2009; 15; 73: 887-897.
• 17. Seltzer LE, Paciorkowski AR. Genetic disorders associated with postnatal microcephaly. Am J Med Genet C Semin Med Genet. 2014; 166C: 140-155.
• 18. Nowaczyk MJ, Irons MB. Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. Am J Med Genet C Semin Med Genet. 2012 15; 160C: 250-262.
• 19. Garavelli L, Mainardi PC. Mowat-Wilson syndrome. Orphanet J Rare Dis. 2007; 24; 2:42