The Genetics of Primary Microcephaly.
@article{Jayaraman2018TheGO, title={The Genetics of Primary Microcephaly.}, author={Divya Jayaraman and Byoung-il Bae and Christopher A. Walsh}, journal={Annual review of genomics and human genetics}, year={2018}, volume={19}, pages={ 177-200 } }
Primary microcephaly (MCPH, for "microcephaly primary hereditary") is a disorder of brain development that results in a head circumference more than 3 standard deviations below the mean for age and gender. It has a wide variety of causes, including toxic exposures, in utero infections, and metabolic conditions. While the genetic microcephaly syndromes are relatively rare, studying these syndromes can reveal molecular mechanisms that are critical in the regulation of neural progenitor cells…
167 Citations
Autosomal Recessive Primary Microcephaly: Not Just a Small Brain
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A deeper look into the microcephalic MCPH brain is provided and cytoarchitecture focusing on the cerebral cortex is explored and diverse processes occurring at the level of neural progenitors, early generated and mature neurons, and glial cells are discussed.
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A novel patient with congenital microcephaly, ID, language delay, short stature, and other minor features such as strabismus is presented, in an effort to provide additional clues for a comprehensive definition of disease presentation and evolution.
Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene
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The clinical and genetic findings in 2 cases with cortical dysplasia in which truncated variants in the ASPM gene were detected are discussed, particularly in terms of genotype-phenotype correlation in comparison with the literature.
The Yin and Yang of Autosomal Recessive Primary Microcephaly Genes: Insights from Neurogenesis and Carcinogenesis
- BiologyInternational journal of molecular sciences
- 2020
The roles of MCPH genes in Autosomal recessive primary microcephaly and carcinogenesis are summarized and the underlying mechanisms are explored to explore new, attractive approaches to targeting tumor cells that are resistant to the current therapies.
Molecular Genetics of Microcephaly Primary Hereditary: An Overview
- Medicine, BiologyBrain sciences
- 2021
The role of MCPH proteins is discussed, the molecular mechanisms and common pathways in which they participate are delineated, and the mechanisms operating during normal development are outlined.
Loss of CPAP in developing mouse brain and its functional implication for human primary microcephaly
- BiologyJournal of Cell Science
- 2020
It is indicated that complete CPAP loss leads to severe and complex phenotypes in developing mouse brain, and new insights into the causes of MCPH are provided.
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
- MedicineJournal of Medical Genetics
- 2020
This is the first report indicating that CDK5RAP2 not only governs brain size but also plays a role in ocular and cochlear development and is necessary for hypothalamic nuclear separation at the midline.
Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).
- Biology, MedicineGenetics research
- 2018
Examination of newly identified genes along with previously identified genes involved in autosomal recessive MCPH is examined, clarifying the understanding about the molecular basis of microcephaly genetic disorder and informing researchers about the clinical management of families that are suffering from this ailment.
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