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。

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Gabriele Di Pasquale, Camilla Valsecchi, Giulia Marie Smylie, Vincenzo Salpietro, Gian Vincenzo Zuccotti, Maurizio Delvecchio, Chiara Mameli
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引用次数: 0

摘要

单基因糖尿病是指由单一基因致病变异引起的异质性糖尿病。神经发育障碍(ndd)是一种以神经系统发育和/或功能损害为特征的临床和分子异质性疾病,具有广泛的临床变异性。在过去的十年中,下一代测序(NGS)方法在发现ndd和糖尿病的许多单基因原因方面发挥了至关重要的作用。在这篇系统综述中,我们的目标是概述新的和新兴的单基因疾病表现为儿童糖尿病和伴随的ndd。用一组合适的关键词在PubMed和Embase中进行文献检索。我们检查了26篇文章。致病变异已根据糖尿病发病年龄进行分类。对入选的论文进行了深入的分析,重点是临床描述和明确致病基因的分子意义。近年来,一些有趣的论文揭示了葡萄糖和胰岛素代谢与大脑发育和功能潜在的共同疾病机制。dm相关ndd的广泛临床和分子谱突出了对这些新出现的临床状况进行全面和多学科管理的重要性,以及适当治疗方法日益重要的作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
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
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