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.

IF 1.6 4区医学 Q4 GENETICS & HEREDITY

Molecular Genetics & Genomic Medicine Pub Date : 2025-08-01 DOI:10.1002/mgg3.70130

Hui Wang, Shengli Li, Qiong Zhen, Huaxuan Wen, Bingguang Liu, Liyuan Chen, Yang Liu, Caiqun Luo, Xiaoxia Wu

{"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":"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.","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}

引用次数: 0

Abstract

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.

Abstract Image

查看原文本刊更多论文

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

目的：探讨mTOR通路基因异常（OCMMPG）导致的过度生长综合征和/或脑畸形胎儿大脑皮质沟和脑回发育异常，重点研究mTOR通路基因异常与产前影像学的相关性。方法：回顾性分析3例经全外显子组测序（WES）诊断的OCMMPG病例。使用2D横断面成像和3D反演crystalvalue /Realisticvue （3D- icrv）渲染来评估Sulco-gyral形态学。结果：所有病例均通过2D和3D-ICRV显像发现多发小回症（PMG）。第三个胎儿表现出畸形的Sylvian裂缝和发育不全的顶枕沟（POS）。3D-ICRV显示皮质增厚和微回融合，符合PMG标准。结论：结合2D成像和3D-ICRV技术，可以对骶回发育进行全面的产前评估。我们的研究结果强调了这种方法在检测mtor相关皮质发育不良中的应用，特别是在非典型Sylvian裂隙或POS发育不全的病例中。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

4.20

自引率

0.00%

发文量

241

审稿时长

14 weeks

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.