Interconnecting pancreatic ducts: unique ductogenesis in a patient with Kabuki syndrome and cytochrome C deficiency
(Source: Gastrointestinal Endoscopy)
Source: Gastrointestinal Endoscopy - October 27, 2020 Category: Gastroenterology Authors: Mena Bakhit, Thomas Kowalski Source Type: research
Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report
Kabuki syndrome (KS) is a rare congenital condition with cardinal manifestations of typical facial features, developmental delays, skeletal anomalies, abnormal dermatoglyphic presentations, and mild to moderat... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 2, 2020 Category: Genetics & Stem Cells Authors: Wei Guo, Yanguo Zhao, Shuwei Li, Jingqun Wang and Xiang Liu Tags: Case report Source Type: research
Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation
Persistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental consequences, is a leading cause of neonatal care admission. Hyperinsulinemic hypoglycemia is often resistant to dextrose... (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - September 18, 2020 Category: Pediatrics Authors: Ettore Piro, Ingrid Anne Mandy Schierz, Vincenzo Antona, Maria Pia Pappalardo, Mario Giuffr è, Gregorio Serra and Giovanni Corsello Tags: Case report Source Type: research
Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation
ConclusionsKabuki syndrome should be considered when facing neonatal persistent hypoglycemia. Diazoxide may help to improve hyperinsulinemic hypoglycemia. A multidisciplinary and individualized follow-up should be carried out for early diagnosis and treatment of severe pathological associated conditions. (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - September 17, 2020 Category: Pediatrics Source Type: research
GSE135550 MLL4 establishes enhancer-associated condensates to counterbalance Polycomb-mediated nuclear mechanical stress in Kabuki Syndrome [3'UTR RNA-seq]
This study supports the notion that MLL4 contributes to the functional partitioning of chromatin, which is required to determine the structure and the mechanical properties of the nucleus. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - September 9, 2020 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
Authors: Mısırlıgil M, Yıldız Y, Akın O, Odabaşı Güneş S, Arslan M, Ünay B
Abstract
Kabuki syndrome (KS) is a disease characterized by distinctive facial features, skeletal anomalies and delay in neuromotor development. KS 1 is an autosomal dominant condition caused by mutations in the KMT2D gene, whereas KS 2 is an X-linked disorder caused by mutations in the KDM6A gene. In the majority of KS patients who present with hypoglycemia, KDM6A is the defective gene. A 9-month old girl was admitted to our emergency department due to a seizure. In the physical examination, hypotonia, mild facial dysmor...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - August 25, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research
Mechanisms of pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki Syndrome
Publication date: 2020Source: Computational and Structural Biotechnology Journal, Volume 18Author(s): Francesco Petrizzelli, Tommaso Biagini, Alessandro Barbieri, Luca Parca, Noemi Panzironi, Stefano Castellana, Viviana Caputo, Angelo Luigi Vescovi, Massimo Carella, Tommaso Mazza (Source: Computational and Structural Biotechnology Journal)
Source: Computational and Structural Biotechnology Journal - August 13, 2020 Category: Biotechnology Source Type: research
Mechanisms of the pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki Syndrome
Publication date: Available online 25 July 2020Source: Computational and Structural Biotechnology JournalAuthor(s): Francesco Petrizzelli, Tommaso Biagini, Alessandro Barbieri, Luca Parca, Noemi Panzironi, Stefano Castellana, Viviana Caputo, Angelo Luigi Vescovi, Massimo Carella, Tommaso Mazza (Source: Computational and Structural Biotechnology Journal)
Source: Computational and Structural Biotechnology Journal - July 25, 2020 Category: Biotechnology Source Type: research
GSE149688 The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology
We report RNA-seq from mouse E14.25 WT and KMT2D neural crest cell knockout palatal shelves (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - June 1, 2020 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE Study): prospective cohort study and systematic review.
CONCLUSIONS: Despite the apparent incremental yield of prenatal exome sequencing in congenital heart disease, the routine application of such a policy would require the adoption of robust bioinformatic, clinical and ethical pathways. Whilst the greatest yield is with multi-system anomalies, consideration may also be given to performing ES in the presence of isolated cardiac abnormalities. This article is protected by copyright. All rights reserved.
PMID: 32388881 [PubMed - as supplied by publisher] (Source: The Ultrasound Review of Obstetrics and Gynecology)
Source: The Ultrasound Review of Obstetrics and Gynecology - May 9, 2020 Category: Radiology Authors: Mone F, Eberhardt RY, Morris RK, Hurles ME, Mcmullan DJ, Maher ER, Lord J, Chitty LS, Giordano JL, Wapner RJ, Kilby MD, CODE Study Collaborators Tags: Ultrasound Obstet Gynecol Source Type: research
Hyperinsulinism of Kabuki Syndrome: Clinical Characteristics and Treatments
Background: Kabuki syndrome is caused by heterozygous mutations in the KMT2D or KDM6A genes and has an incidence of 1:30,000 live births. Typical features include craniofacial dysmorphism, fetal finger pads, congenital cardiac defects, hearing deficits, immune deficiency, poor feeding, growth delay, and developmental delay. Hyperinsulinism is a common but under-appreciated feature of Kabuki syndrome. (Source: Journal of Pediatric Nursing)
Source: Journal of Pediatric Nursing - April 30, 2020 Category: Nursing Authors: Heather McNight, Kara Boodhansingh, Laureen Mitteer, Kosuke Izumi, Katherine Lord, Charles Stanley, Diva De Leon, Amanda Ackermann Source Type: research
GSE149439 The histone H3-lysine 4-methyltransferase Mll4 governs the development of growth hormone-releasing hormone-producing neurons
Contributors : Su J Lim ; Sung M Youn ; Sangsoo Kim ; Jae W LeeSeries Type : Genome binding/occupancy profiling by high throughput sequencingOrganism : Mus musculusIn humans, inactivating mutations in MLL4, which encodes a histone H3-lysine 4-methyltrasferase, lead to Kabuki syndrome (KS). While dwarfism is a cardinal feature of KS, the underlying etiology remains unclear. Here we report that Mll4 is a critical regulator of the development of growth hormone-releasing hormone (GHRH)-producing neurons in the hypothalamus. The two distinct Mll4 mutant mouse models exhibited dwarfism, accompanied by impairment of developmenta...
Source: GEO: Gene Expression Omnibus - April 28, 2020 Category: Genetics & Stem Cells Tags: Genome binding/occupancy profiling by high throughput sequencing Mus musculus Source Type: research
A fetus with Kabuki syndrome 2 detected by chromosomal microarray analysis.
CONCLUSIONS: We report a fetus with Kabuki syndrome 2 detected using CMA. It is strongly recommended that CMA be included in prenatal diagnosis in fetuses with growth retardation, cardiovascular and musculoskeletal abnormalities revealed by routine Color Doppler ultrasonography.
PMID: 32211113 [PubMed] (Source: International Journal of Clinical and Experimental Pathology)
Source: International Journal of Clinical and Experimental Pathology - March 28, 2020 Category: Pathology Authors: Lin CZ, Qi BR, Hu JS, Huang XQ Tags: Int J Clin Exp Pathol Source Type: research
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
Genetics in Medicine, Published online: 23 March 2020; doi:10.1038/s41436-020-0784-7Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 22, 2020 Category: Genetics & Stem Cells Authors: Sara Cuvertino Verity Hartill Alice Colyer Terence Garner Nisha Nair Lihadh Al-Gazali Natalie Canham Victor Faundes Frances Flinter Jozef Hertecant Muriel Holder-Espinasse Brian Jackson Sally Ann Lynch Fatima Nadat Vagheesh M. Narasimhan Michelle Peckham Source Type: research
Lacrimal Puncta Agenesis in Kabuki Syndrome
Kabuki syndrome (KS) is a rare congenital disorder characterized by multiple systemic anomalies and facial characteristics. Here, the authors present the first case, to the best of the authors' knowledge, of bilateral lacrimal puncta agenesis in a patient with KS.#8232;The proband patient was a 29-year-old woman diagnosed with this syndrome, brought to our office due to recurrent conjunctivitis where agenesia of lacrimal puncta was observed. Therapeutic options were exposed but, as the concomitant medication (topiramate) produced ocular dryness, conservative treatment was decided. Diagnosis of KS is challenging because it ...
Source: Ophthalmic Plastic and Reconstructive Surgery - March 1, 2020 Category: Opthalmology Tags: Case Reports Source Type: research
