Gabriele Di Pasquale, Camilla Valsecchi, Giulia Marie Smylie, Vincenzo Salpietro, Gian Vincenzo Zuccotti, Maurizio Delvecchio, Chiara Mameli
{"title":"儿童糖尿病与脑发育障碍相关的单基因原因的临床和分子异质性。","authors":"Gabriele Di Pasquale, Camilla Valsecchi, Giulia Marie Smylie, Vincenzo Salpietro, Gian Vincenzo Zuccotti, Maurizio Delvecchio, Chiara Mameli","doi":"10.1111/cge.70066","DOIUrl":null,"url":null,"abstract":"<p><p>Monogenic Diabetes Mellitus refers to heterogeneous forms of diabetes mellitus (DM) caused by a single gene pathogenic variant. Neurodevelopmental disorders (NDDs) are clinically and molecularly heterogeneous conditions characterized by an impairment of the nervous system development and/or function, with a wide clinical spectrum of variability. Over the last decade, Next Generation Sequencing (NGS) approaches have played a crucial role in the discovery of many monogenic causes underlying both NDDs and diabetes. In this systematic review, we aim to overview novel and emerging monogenic diseases presenting with pediatric diabetes and concomitant NDDs. The literature search was run in PubMed and Embase with a set of appropriate keywords. We examined 26 articles. Pathogenic variants have been classified according to the age of diabetes onset. In-depth analysis has been conducted for the selected papers, focusing on clinical description and molecular implications for a definite disease-causing gene. Interesting papers have revealed in recent years the occurrence of potential shared disease mechanisms underlying glucose and insulin metabolism and brain development and function. The broad clinical and molecular spectrum of DM-associated NDDs highlights the importance of a comprehensive and multidisciplinary management of these emerging clinical conditions and the increasingly crucial role of appropriate therapeutic approaches.</p>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":" ","pages":""},"PeriodicalIF":2.3000,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.\",\"authors\":\"Gabriele Di Pasquale, Camilla Valsecchi, Giulia Marie Smylie, Vincenzo Salpietro, Gian Vincenzo Zuccotti, Maurizio Delvecchio, Chiara Mameli\",\"doi\":\"10.1111/cge.70066\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Monogenic Diabetes Mellitus refers to heterogeneous forms of diabetes mellitus (DM) caused by a single gene pathogenic variant. Neurodevelopmental disorders (NDDs) are clinically and molecularly heterogeneous conditions characterized by an impairment of the nervous system development and/or function, with a wide clinical spectrum of variability. Over the last decade, Next Generation Sequencing (NGS) approaches have played a crucial role in the discovery of many monogenic causes underlying both NDDs and diabetes. In this systematic review, we aim to overview novel and emerging monogenic diseases presenting with pediatric diabetes and concomitant NDDs. The literature search was run in PubMed and Embase with a set of appropriate keywords. We examined 26 articles. Pathogenic variants have been classified according to the age of diabetes onset. In-depth analysis has been conducted for the selected papers, focusing on clinical description and molecular implications for a definite disease-causing gene. Interesting papers have revealed in recent years the occurrence of potential shared disease mechanisms underlying glucose and insulin metabolism and brain development and function. The broad clinical and molecular spectrum of DM-associated NDDs highlights the importance of a comprehensive and multidisciplinary management of these emerging clinical conditions and the increasingly crucial role of appropriate therapeutic approaches.</p>\",\"PeriodicalId\":10354,\"journal\":{\"name\":\"Clinical Genetics\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.3000,\"publicationDate\":\"2025-09-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/cge.70066\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/cge.70066","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.
Monogenic Diabetes Mellitus refers to heterogeneous forms of diabetes mellitus (DM) caused by a single gene pathogenic variant. Neurodevelopmental disorders (NDDs) are clinically and molecularly heterogeneous conditions characterized by an impairment of the nervous system development and/or function, with a wide clinical spectrum of variability. Over the last decade, Next Generation Sequencing (NGS) approaches have played a crucial role in the discovery of many monogenic causes underlying both NDDs and diabetes. In this systematic review, we aim to overview novel and emerging monogenic diseases presenting with pediatric diabetes and concomitant NDDs. The literature search was run in PubMed and Embase with a set of appropriate keywords. We examined 26 articles. Pathogenic variants have been classified according to the age of diabetes onset. In-depth analysis has been conducted for the selected papers, focusing on clinical description and molecular implications for a definite disease-causing gene. Interesting papers have revealed in recent years the occurrence of potential shared disease mechanisms underlying glucose and insulin metabolism and brain development and function. The broad clinical and molecular spectrum of DM-associated NDDs highlights the importance of a comprehensive and multidisciplinary management of these emerging clinical conditions and the increasingly crucial role of appropriate therapeutic approaches.
期刊介绍:
Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice.
Topics of particular interest are:
• Linking genetic variations to disease
• Genome rearrangements and disease
• Epigenetics and disease
• The translation of genotype to phenotype
• Genetics of complex disease
• Management/intervention of genetic diseases
• Novel therapies for genetic diseases
• Developmental biology, as it relates to clinical genetics
• Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease