Mary Iype, Jesmy James, Mithran O Surendran, Ayyappan Anitha
{"title":"南印度人群中多小回症的遗传分析。","authors":"Mary Iype, Jesmy James, Mithran O Surendran, Ayyappan Anitha","doi":"10.4103/aian.aian_1096_24","DOIUrl":null,"url":null,"abstract":"<p><strong>Abstract: </strong>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.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"422-425"},"PeriodicalIF":1.9000,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genetic Profiling of Polymicrogyria in a South Indian Cohort.\",\"authors\":\"Mary Iype, Jesmy James, Mithran O Surendran, Ayyappan Anitha\",\"doi\":\"10.4103/aian.aian_1096_24\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Abstract: </strong>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.</p>\",\"PeriodicalId\":8036,\"journal\":{\"name\":\"Annals of Indian Academy of Neurology\",\"volume\":\" \",\"pages\":\"422-425\"},\"PeriodicalIF\":1.9000,\"publicationDate\":\"2025-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Indian Academy of Neurology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.4103/aian.aian_1096_24\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/5/30 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Indian Academy of Neurology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.4103/aian.aian_1096_24","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/5/30 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Genetic Profiling of Polymicrogyria in a South Indian Cohort.
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.
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The journal has a clinical foundation and has been utilized most by clinical neurologists for improving the practice of neurology. While the focus is on neurology in India, the journal publishes manuscripts of high value from all parts of the world. Journal publishes reviews of various types, original articles, short communications, interesting images and case reports. The journal respects the scientific submission of its authors and believes in following an expeditious double-blind peer review process and endeavors to complete the review process within scheduled time frame. A significant effort from the author and the journal perhaps enables to strike an equilibrium to meet the professional expectations of the peers in the world of scientific publication. AIAN believes in safeguarding the privacy rights of human subjects. In order to comply with it, the journal instructs all authors when uploading the manuscript to also add the ethical clearance (human/animals)/ informed consent of subject in the manuscript. This applies to the study/case report that involves animal/human subjects/human specimens e.g. extracted tooth part/soft tissue for biopsy/in vitro analysis.
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