The genetic landscape of polymicrogyria
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 a...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2022-01-01
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| Series: | Annals of Indian Academy of Neurology |
| Subjects: | |
| Online Access: | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2022;volume=25;issue=4;spage=616;epage=626;aulast=James |
| _version_ | 1828133609804922880 |
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| author | Jesmy James Mary Iype Mithran Omana Surendran Ayyappan Anitha Sanjeev V Thomas |
| author_facet | Jesmy James Mary Iype Mithran Omana Surendran Ayyappan Anitha Sanjeev V Thomas |
| author_sort | Jesmy James |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T17:21:42Z |
| format | Article |
| id | doaj.art-d8d9d820d546462d98ba3320549dd1b4 |
| institution | Directory Open Access Journal |
| issn | 0972-2327 1998-3549 |
| language | English |
| last_indexed | 2024-04-11T17:21:42Z |
| publishDate | 2022-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Annals of Indian Academy of Neurology |
| spelling | doaj.art-d8d9d820d546462d98ba3320549dd1b42022-12-22T04:12:28ZengWolters Kluwer Medknow PublicationsAnnals of Indian Academy of Neurology0972-23271998-35492022-01-0125461662610.4103/aian.aian_97_22The genetic landscape of polymicrogyriaJesmy JamesMary IypeMithran Omana SurendranAyyappan AnithaSanjeev V ThomasPolymicrogyria (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.http://www.annalsofian.org/article.asp?issn=0972-2327;year=2022;volume=25;issue=4;spage=616;epage=626;aulast=James22q11.2 deletioncortical foldinggpr56polymicrogyriatubulins |
| spellingShingle | Jesmy James Mary Iype Mithran Omana Surendran Ayyappan Anitha Sanjeev V Thomas The genetic landscape of polymicrogyria Annals of Indian Academy of Neurology 22q11.2 deletion cortical folding gpr56 polymicrogyria tubulins |
| title | The genetic landscape of polymicrogyria |
| title_full | The genetic landscape of polymicrogyria |
| title_fullStr | The genetic landscape of polymicrogyria |
| title_full_unstemmed | The genetic landscape of polymicrogyria |
| title_short | The genetic landscape of polymicrogyria |
| title_sort | genetic landscape of polymicrogyria |
| topic | 22q11.2 deletion cortical folding gpr56 polymicrogyria tubulins |
| url | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2022;volume=25;issue=4;spage=616;epage=626;aulast=James |
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