常见多发性先天畸形综合征与潜在染色质病的模式识别。

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2022-06-27 eCollection Date: 2024-03-01 DOI:10.1055/s-0042-1748019

Anupriya Kaur, Chakshu Chaudhry, Parminder Kaur, Roshan Daniel, Priyanka Srivastava

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引用次数: 0

摘要

染色质病是一种新出现的多发性畸形综合征，由染色质状态（即开放或封闭染色质）失衡导致的全局转录调控紊乱引起。这些综合征是由编码表观遗传机制的撰写者、擦除者、阅读者和重塑者的基因中的致病变异引起的。这些疾病中的大多数（93%）表现为智力障碍形式的神经功能障碍。其他重叠特征包括生长异常、肢体畸形和免疫功能障碍。在本研究中，我们描述了一系列患有六种常见染色质病综合征的儿童，旨在对这一新兴的多重畸形综合征类别进行模式识别。

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Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy.

Chromatinopathy is an emerging category of multiple malformation syndromes caused by disruption in global transcriptional regulation with imbalances in the chromatin states (i.e., open or closed chromatin). These syndromes are caused by pathogenic variants in genes coding for the writers, erasers, readers, and remodelers of the epigenetic machinery. Majority of these disorders (93%) show neurological dysfunction in the form of intellectual disability. Other overlapping features are growth abnormalities, limb deformities, and immune dysfunction. In this study, we describe a series of children with six common chromatinopathy syndromes with an aim to develop pattern recognition of this emerging category of multiple malformation syndromes.

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Journal of pediatric genetics PEDIATRICS-

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期刊介绍： The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.