Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic Disorders
Condition: Kabuki Syndrome 1 Intervention: Genetic: Intervention on primary cultured cells Sponsors: University Hospital, Montpellier; Association Française contre les Myopathies Telethon Active, not recruiting
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]
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.
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 developmental...
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]
Artificial intelligence does wonders in healthcare. The technology helped issue the first COVID-19 warning before the WHO and CDC did so. It can slash the phenomenon of alarm fatigue. IBM’s Watson Health leverages the power of A.I. to bring drugs to the market faster. And it does so while cutting costs by over 50%. Speaking of IBM Watson, while the algorithm got its name from the company’s founder Thomas J. Watson, there’s another pop culture figure attached to that name. It’s elementary; we’re talking about none other than Sherlock Holmes’ sidekick, Dr. Watson. It seems like real-wor...
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
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 ...
We report a successful case of mitral valve repair involving the novel option of interannular bridge for valvuloplasty to address congenital mitral regurgitation. PMID: 32119854 [PubMed - as supplied by publisher]
"RE: Lin JL, et al. 'Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.' Clin Genet. 2015;88(3):255-260". Clin Genet. 2020 Mar;97(3):538-539 Authors: Lindsley AW PMID: 32064601 [PubMed - in process]
Genetics in Medicine, Published online: 17 January 2020; doi:10.1038/s41436-019-0743-3A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome