{"title":"MTOR通路基因异常导致的过度生长综合征和/或大脑畸形胎儿大脑皮质沟和脑回发育的产前超声研究","authors":"Hui Wang, Shengli Li, Qiong Zhen, Huaxuan Wen, Bingguang Liu, Liyuan Chen, Yang Liu, Caiqun Luo, Xiaoxia Wu","doi":"10.1002/mgg3.70130","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the abnormal development of cerebral cortical sulci and gyri in fetuses with Overgrowth Syndrome and/or Cerebral Malformations Due to mTOR Pathway Gene Abnormalities (OCMMPG), focusing on prenatal imaging correlates of mTOR dysregulation.</p><p><strong>Methods: </strong>Retrospective analysis of three OCMMPG cases diagnosed via whole-exome sequencing (WES). Sulco-gyral morphology was assessed using 2D cross-sectional imaging and 3D inversion Crystalvue/Realisticvue (3D-ICRV) rendering.</p><p><strong>Results: </strong>Polymicrogyria (PMG) was identified in all cases via 2D and 3D-ICRV imaging. The third fetus exhibited a malformed Sylvian fissure and hypoplastic parieto-occipital sulcus (POS). 3D-ICRV revealed cortical thickening and microgyral fusion, aligning with PMG criteria.</p><p><strong>Conclusions: </strong>The integration of 2D imaging and 3D-ICRV technology enables comprehensive prenatal assessment of sulco-gyral development. Our findings highlight the utility of this approach in detecting mTOR-related cortical dysplasias, particularly in cases with atypical Sylvian fissure or POS hypoplasia.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 8","pages":"e70130"},"PeriodicalIF":1.6000,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12344134/pdf/","citationCount":"0","resultStr":"{\"title\":\"A Prenatal Ultrasound Study of Cerebral Cortical Sulci and Gyri Development in Fetuses With Overgrowth Syndrome and/or Cerebral Malformations due to Abnormalities in MTOR Pathway Genes.\",\"authors\":\"Hui Wang, Shengli Li, Qiong Zhen, Huaxuan Wen, Bingguang Liu, Liyuan Chen, Yang Liu, Caiqun Luo, Xiaoxia Wu\",\"doi\":\"10.1002/mgg3.70130\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>To investigate the abnormal development of cerebral cortical sulci and gyri in fetuses with Overgrowth Syndrome and/or Cerebral Malformations Due to mTOR Pathway Gene Abnormalities (OCMMPG), focusing on prenatal imaging correlates of mTOR dysregulation.</p><p><strong>Methods: </strong>Retrospective analysis of three OCMMPG cases diagnosed via whole-exome sequencing (WES). Sulco-gyral morphology was assessed using 2D cross-sectional imaging and 3D inversion Crystalvue/Realisticvue (3D-ICRV) rendering.</p><p><strong>Results: </strong>Polymicrogyria (PMG) was identified in all cases via 2D and 3D-ICRV imaging. The third fetus exhibited a malformed Sylvian fissure and hypoplastic parieto-occipital sulcus (POS). 3D-ICRV revealed cortical thickening and microgyral fusion, aligning with PMG criteria.</p><p><strong>Conclusions: </strong>The integration of 2D imaging and 3D-ICRV technology enables comprehensive prenatal assessment of sulco-gyral development. Our findings highlight the utility of this approach in detecting mTOR-related cortical dysplasias, particularly in cases with atypical Sylvian fissure or POS hypoplasia.</p>\",\"PeriodicalId\":18852,\"journal\":{\"name\":\"Molecular Genetics & Genomic Medicine\",\"volume\":\"13 8\",\"pages\":\"e70130\"},\"PeriodicalIF\":1.6000,\"publicationDate\":\"2025-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12344134/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular Genetics & Genomic Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/mgg3.70130\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Genetics & Genomic Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/mgg3.70130","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
A Prenatal Ultrasound Study of Cerebral Cortical Sulci and Gyri Development in Fetuses With Overgrowth Syndrome and/or Cerebral Malformations due to Abnormalities in MTOR Pathway Genes.
Objectives: To investigate the abnormal development of cerebral cortical sulci and gyri in fetuses with Overgrowth Syndrome and/or Cerebral Malformations Due to mTOR Pathway Gene Abnormalities (OCMMPG), focusing on prenatal imaging correlates of mTOR dysregulation.
Methods: Retrospective analysis of three OCMMPG cases diagnosed via whole-exome sequencing (WES). Sulco-gyral morphology was assessed using 2D cross-sectional imaging and 3D inversion Crystalvue/Realisticvue (3D-ICRV) rendering.
Results: Polymicrogyria (PMG) was identified in all cases via 2D and 3D-ICRV imaging. The third fetus exhibited a malformed Sylvian fissure and hypoplastic parieto-occipital sulcus (POS). 3D-ICRV revealed cortical thickening and microgyral fusion, aligning with PMG criteria.
Conclusions: The integration of 2D imaging and 3D-ICRV technology enables comprehensive prenatal assessment of sulco-gyral development. Our findings highlight the utility of this approach in detecting mTOR-related cortical dysplasias, particularly in cases with atypical Sylvian fissure or POS hypoplasia.
期刊介绍：
Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care.
Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.
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