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Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management.
Birth Defects Res
July 2024
Department of Health Sciences, Università Degli Studi di Milano, Milan, Italy.
Background: Chromatinopathies are a heterogeneous group of genetic disorders caused by pathogenic variants in genes coding for chromatin state balance proteins. Remarkably, many of these syndromes present unbalanced postnatal growth, both under- and over-, although little has been described in the literature. Fetal growth measurements are common practice in pregnancy management and values within normal ranges indicate proper intrauterine growth progression; on the contrary, abnormalities in intrauterine fetal growth open the discussion of possible pathogenesis affecting growth even in the postnatal period.
View Article and Find Full Text PDFBiallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty.
Am J Med Genet A
October 2024
Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
Pathogenic variants of polycomb repressive complex-2 (PRC2) subunits are associated with overgrowth syndromes and neurological diseases. EZH2 is a major component of PRC2 and mediates the methylation of H3K27 trimethylation (H3K27me3). Germline variants of EZH2 have been identified as a cause of Weaver syndrome (WS), an overgrowth/intellectual disability (OGID) syndrome characterized by overgrowth, macrocephaly, accelerated bone age, intellectual disability (ID), and characteristic facial features.
View Article and Find Full Text PDFClinical Case of Mild Tatton-Brown-Rahman Syndrome Caused by a Nonsense Variant in Gene.
Clin Pract
May 2024
Research Centre for Medical Genetics, 115522 Moscow, Russia.
Tatton-Brown-Rahman syndrome is a rare autosomal dominant hereditary disease caused by pathogenic variants in the gene, which is an important participant in epigenetic regulation, especially during embryonic development, and is highly expressed in all tissues. The main features of the syndrome are high growth, macrocephaly, intellectual disability, and facial dysmorphic features. We present a clinical case of Tatton-Brown-Rahman syndrome in a ten-year-old boy with macrocephaly with learning difficulties, progressive eye impairment, and fatigue suspected by a deep learning-based diagnosis assistance system, Face2Gene.
View Article and Find Full Text PDFExpanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the Gene.
Mol Syndromol
March 2024
Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA.
Introduction: Weaver syndrome (WS) is a rare autosomal dominant disorder characterized by distinctive facial features, pre- and post-natal overgrowth, macrocephaly, and variable developmental delay. The characteristic facial features are ocular hypertelorism, a broad forehead, almond-shaped palpebral fissures and, in early childhood, large, fleshy ears, a pointed "stuck-on" chin with horizontal skin creases, and retrognathia. Heterozygous pathogenic/likely pathogenic variants in the enhancer of zeste homolog 2 () gene are responsible for WS.
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