Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome

Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome J Clin Res Pediatr Endocrinol. 2018 Oct 23;: Authors: Maffre I, Vincenti M, Dalla Vale F, Amouroux C, Werner O, Meilhac A, de Barry G, Amedro P PMID: 30362323 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

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Conclusions: The clinical diagnosis of KS is challenging because the most remarkable facial features are not evident until early childhood. In this case, bilateral congenital corneal opacities were identified as an early-onset ocular manifestation of KS. KS should be considered as a differential diagnosis in patients with bilateral congenital corneal opacities.
Source: Cornea - Category: Opthalmology Tags: Case Report Source Type: research
Genetics in Medicine, Published online: 31 July 2019; doi:10.1038/s41436-019-0623-xImmunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
Source: Genetics in Medicine - Category: Genetics & Stem Cells Authors: Source Type: research
This article is protected by copyright. All rights reserved. PMID: 31282990 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
Germline mutations in fundamental epigenetic regulatory molecules including DNA methyltransferase 3 alpha (DNMT3A) are commonly associated with growth disorders, whereas somatic mutations are often associated with malignancy. We profiled genome-wide DNA methylation patterns in DNMT3A c.2312G> A; p.(Arg771Gln) carriers in a large Amish sibship with Tatton-Brown–Rahman syndrome (TBRS), their mosaic father, and 15 TBRS patients with distinct pathogenic de novo DNMT3A variants. This defined widespread DNA hypomethylation at specific genomic sites enriched at locations annotated as genes involved in morphogenesis, deve...
Source: Genome Research - Category: Genetics & Stem Cells Authors: Tags: RESEARCH Source Type: research
Publication date: Available online 19 June 2019Source: Gene Expression PatternsAuthor(s): Chunmin Dong, Meenakshi Umar, Garrett Bartoletti, Apurva Gahankari, Lauren Fidelak, Fenglei HeAbstractFormation of the calvaria is a multi-staged process and is regulated by multiple genetic factors. Disruption of normal calvarial development usually causes craniosynostosis, a prevalent birth defect characterized by premature fusion of calvarial bone. Recent studies have identified mutations of KMT2D allele in patients with craniosynostosis, indicating a potential role for Kmt2d in calvarial development. KMT2D mutations have also been...
Source: Gene Expression Patterns - Category: Genetics & Stem Cells Source Type: research
Abstract Formation of the calvaria is a multi-staged process and is regulated by multiple genetic factors. Disruption of normal calvarial development usually causes craniosynostosis, a prevalent birth defect characterized by premature fusion of calvarial bone. Recent studies have identified mutations of KMT2D allele in patients with craniosynostosis, indicating a potential role for Kmt2d in calvarial development. KMT2D mutations have also been implicated in Kabuki syndrome, which features a distinct facial appearance, skeletal abnormality, growth retardation and intellectual disability. However, the expression pat...
Source: Gene Expression Patterns : GEP - Category: Genetics & Stem Cells Authors: Tags: Gene Expr Patterns Source Type: research
Germline mutations in fundamental epigenetic regulatory molecules including DNA methyltransferase 3 alpha (DNMT3A) are commonly associated with growth disorders, whereas somatic mutations are often associated with malignancy. We profiled genome-wide DNA methylation patterns in DNMT3A c.2312G>A; p.(Arg771Gln) carriers in a large Amish sibship with Tatton-Brown-Rahman syndrome (TBRS), their mosaic father and 15 TBRS patients with distinct pathogenic de novo DNMT3A variants. This defined widespread DNA hypomethylation at specific genomic sites enriched at locations annotated to genes involved in morphogenesis, development,...
Source: Genome Research - Category: Genetics & Stem Cells Authors: Tags: RESEARCH Source Type: research
Discussion: This case confirms congenital glaucoma as a rare association of KS, and highlights the potential high-risk nature of such cases. In our opinion, the presence of high levels of inflammation perioperatively and postoperatively is an indication for primary glaucoma drainage device surgery given the high risk of bleb scarring resulting in recurrent surgical revisions. In view of these observations, we also advocate the use of intensive postoperative anti-inflammatory therapy.
Source: Journal of Glaucoma - Category: Opthalmology Tags: Online Articles: Case Report/Small Case Series Source Type: research
Publication date: Available online 6 May 2019Source: Molecular Genetics and MetabolismAuthor(s): Iveta Gažová, Andreas Lengeling, Kim M. SummersAbstractHistone demethylases remove transcriptional repressive marks from histones in the nucleus. KDM6A (also known as UTX) is a lysine demethylase which acts on the trimethylated lysine at position 27 in histone 3. The KDM6A gene is located on the X chromosome but escapes X inactivation even though it is not located in the pseudoautosomal region. There is a homologue of KDM6A on the Y chromosome, known as UTY. UTY was thought to have lost its demethylase activity and to r...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
In this study, we took a non-stringent score (score = 0) as the threshold to investigate the improvement of the calling results. Genotype Quality Genotype Quality (GQ) (Zhang et al., 2013) is used to evaluate the filtering results of DNSNVs, which indicates the quality value of the most likely genotype. The quality value refers the possibility of the genotype being present at the site. The larger value means the greater the likelihood of the genotype. Results To facilitate the appropriate choice of the trio calling pipelines for detecting the DNSNVs, in our study, we firstly evaluated the results of three commonly used...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
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