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. 2025 May 1;28(3):422-425.
doi: 10.4103/aian.aian_1096_24. Epub 2025 May 30.

Genetic Profiling of Polymicrogyria in a South Indian Cohort

Mary Iype  1   2   3 , Jesmy James  4 , Mithran O Surendran  5 , Ayyappan Anitha  4
Affiliations

Genetic Profiling of Polymicrogyria in a South Indian Cohort

Mary Iype et al. Ann Indian Acad Neurol. .

Abstract

Polymicrogyria (PMG) represents a complex disorder involving malformation of the cortex. There have not been any comprehensive genetic studies of PMG from India. Here, we have done a whole-exome sequencing (WES) study of the PMG patients in a South Indian population to identify the genetic causes of PMG. The study design was descriptive. Twenty patients with PMG were recruited for the study. WES was done for all the participants. Our study identified a few potential candidate genes associated with PMG, including ROS1, PIK3R2, SUSD2, NPIPB15, RBMX, DENND4B, KRT18, PUS1 , and TTC28 . Notably, some of these genes have been identified as having a substantial role in neurodevelopment. Some novel candidate genes of PMG were also identified in this study. The PMG-associated genes were enriched in the biological processes involved in cell adhesion, cytoskeleton organization, and nervous system development.

Keywords: Polymicrogyria; cell adhesion; cytoskeleton; malformation of the cortex; whole-exome sequencing.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
A case with bilateral perisylvian polymicrogyria
Figure 2
Figure 2
A case with abnormal gyration in bilateral parietal lobes with polymicrogyria
Figure 3
Figure 3
A case with polymicrogyria in both parieto-occipital lobes
See this image and copyright information in PMC

References

    1. Kolbjer S, Martín Muñoz DA, Örtqvist AK, Pettersson M, Hammarsjö A, Anderlid BM, et al. Polymicrogyria: Epidemiology, imaging, and clinical aspects in a population-based cohort. Brain Commun. 2023;5:fcad213. - PMC - PubMed
    1. Chang BS, Apse KA, Caraballo R, Cross JH, Mclellan A, Jacobson RD, et al. A familial syndrome of unilateral polymicrogyria affecting the right hemisphere. Neurology. 2006;66:133–5. - PubMed
    1. James J, Iype M, Surendran MO, Anitha A, Thomas SV. The genetic landscape of polymicrogyria. Ann Indian Acad Neurol. 2022;25:616–26. - PMC - PubMed
    1. Nadjar Y, Triller A, Bessereau JL, Dumoulin A. The Susd2 protein regulates neurite growth and excitatory synaptic density in hippocampal cultures. Mol Cell Neurosci. 2015;65:82–91. - PubMed
    1. Johansson J, Lidéus S, Frykholm C, Gunnarsson C, Mihalic F, Gudmundsson S, et al. Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions. Eur J Hum Genet. 2024;32:333–41. - PMC - PubMed

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