AJMG-Part_C_Congenital_MIC__2014.pdf (324.7 kB)
Congenital microcephaly
journal contribution
posted on 2023-06-08, 17:17 authored by Diana AlcantaraDiana Alcantara, Mark O'DriscollMark O'DriscollThe underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a consolidation and emergence of certain themes concerning underlying pathomechanisms. These include abnormal mitotic microtubule spindle structure, numerical and structural abnormalities of the centrosome, altered cilia function, impaired DNA repair, DNA Damage Response signaling and DNA replication, along with attenuated cell cycle checkpoint proficiency. Many of these processes are highly interconnected. Interestingly, a defect in a gene whose encoded protein has a canonical function in one of these processes can often have multiple impacts at the cellular level involving several of these pathways. Here, we overview the key pathomechanistic themes underlying profound congenital microcephaly, and emphasize their interconnected nature.
History
Publication status
- Published
File Version
- Published version
Journal
American Journal of Medical Genetics Part C: Seminars in Medical GeneticsISSN
1552-4868Publisher
John Wiley & SonsExternal DOI
Issue
2Volume
166Page range
124-139Department affiliated with
- Sussex Centre for Genome Damage Stability Publications
Full text available
- Yes
Peer reviewed?
- Yes
Legacy Posted Date
2014-05-16First Open Access (FOA) Date
2016-01-11First Compliant Deposit (FCD) Date
2014-05-16Usage metrics
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