Annals of Indian Academy of Neurology
  Users Online: 9456 Home | About the Journal | InstructionsCurrent Issue | Back IssuesLogin      Print this page Email this page  Small font size Default font size Increase font size
 
AIAN REVIEW
Ahead of Print

The genetic landscape of polymicrogyria


1 Department of Neurogenetics, Institute for Communicative and Cognitive Neurosciences (ICCONS), Shoranur, Palakkad, Kerala, India
2 Department of Neurology, Institute for Communicative and Cognitive Neurosciences (ICCONS), Shoranur, Palakkad; Department of Paediatric Neurology, Government Medical College; Department of Neurology, ICCONS, Pulayanarkotta, Thriruvananthapuram, Kerala, India
3 Radiology Division, Hindlabs Imaging Center, Thriruvananthapuram, Kerala, India
4 Department of Neurology, Institute for Communicative and Cognitive Neurosciences (ICCONS), Shoranur, Palakkad; Department of Neurology, ICCONS, Pulayanarkotta, Thriruvananthapuram, Kerala, India

Correspondence Address:
Ayyappan Anitha,
Department of Neurogenetics, Institute for Communicative and Cognitive Neurosciences (ICCONS), Kavalappara, Shoranur, Palakkad - 679 523, Kerala
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.aian_97_22

Polymicrogyria (PMG) is a relatively common complex malformation with cortical development, characterized by an exorbitant number of abnormally tiny gyri separated by shallow sulci. It is a neuronal migration disorder. Familial cases of PMG and the manifestation of PMG in patients with chromosomal aberrations and mutations indicate their important role of genetics in this disorder. The highly stereotyped and well-conserved nature of the cortical folding pattern in humans is suggestive of the genetic regulation of the process. The chromosomal abnormalities observed in PMG include deletions, duplications, chromosomal rearrangements, and aneuploidies. Two of the most common deletions in PMG are 22q11.2 deletion and 1p36 deletion. Further, mutations in several genes such as GPR56, TUBB2B, SRPX2, PAX6, EOMES, WDR62, TUBA8, KIAA1279, and COL18A1 are known to be associated with PMG. Intriguingly, these genes are responsible only for a small number of cases of PMG. The protein products of these genes are implicated in diverse molecular and cellular functions. Taken together, PMG could be the result of the disruption of several biological pathways. Different modes of Mendelian inheritance and non-Mendelian inheritance are seen in PMG. We have suggested a gene panel that can be used for the detection of malformations of cortical development.


Print this article
 [NEXT]
 [PREV]
 Table of Contents

  Search Pubmed for
 
    -  James J
    -  Iype M
    -  Surendran MO
    -  Anitha A
    -  Thomas SV
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed35    
    PDF Downloaded0    

Recommend this journal