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AJMG-Part_C_Congenital_MIC__2014.pdf (324.7 kB)

Congenital microcephaly

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journal contribution
posted on 2023-06-08, 17:17 authored by Diana AlcantaraDiana Alcantara, Mark O'DriscollMark O'Driscoll
The 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 Genetics

ISSN

1552-4868

Publisher

John Wiley & Sons

Issue

2

Volume

166

Page range

124-139

Department affiliated with

  • Sussex Centre for Genome Damage Stability Publications

Full text available

  • Yes

Peer reviewed?

  • Yes

Legacy Posted Date

2014-05-16

First Open Access (FOA) Date

2016-01-11

First Compliant Deposit (FCD) Date

2014-05-16

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