The First Case Report of Kabuki Syndrome from the National Iranian Registry of Primary Immunodeficiencies.
Abstract Kabuki syndrome is a rare congenital anomaly/mental retardation syndrome characterized by intellectual disability, developmental delay, short stature, facial dysmorphic features including ectropion of the lateral third of the lower eyelids and long palpebral fissures, and prominent finger pads. Pathogenic variants of KMT2D (MLL2) and KDM6A are found to be the major causes of Kabuki syndrome. Here, we report the first Iranian case with Kabuki syndrome with an IQ of 79, two episodes of viral pneumonia and distinctive facial features, prominent ears and persistent fetal fingertip pads. These characteristics ...
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - January 14, 2021 Category: Endocrinology Authors: Safarirad M, Ganji AA, Fekrvand S, Yazdani R, Motlagh AV, Abolhassani H, Aghamohammadi A Tags: Endocr Metab Immune Disord Drug Targets Source Type: research

Ocular manifestations in kabuki syndrome: A report of 10 cases and literature review.
Conclusions: Ophthalmic abnormalities are frequently associated with KS. The importance of ophthalmological examination in all patients with KS for early detection of ocular anomalies to prevent visual impairment cannot be underemphasized. Abbreviations: KS: Kabuki syndrome. PMID: 33334222 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 20, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Kabuki syndrome: A rare clinical presentation
Abhishek D W.arAnnals of Indian Academy of Neurology 2020 23(6):828-829 (Source: Annals of Indian Academy of Neurology)
Source: Annals of Indian Academy of Neurology - December 18, 2020 Category: Neurology Authors: Abhishek D Wankar Source Type: research

M256 unmasking kabuki syndrome: a 7-year-old girl with recurrent otitis media, hypogammaglobulinemia and autoimmune cytopenias
Kabuki syndrome (KS) is a rare disorder characterized by distinct facial features, growth deficiency, intellectual disability, skeletal and visceral abnormalities and immune dysregulation. It is caused by pathogenic variants in two known genes, KMT2D (histone-lysine N-methyltransferase 2D) and KDM6A (lysine-specific demethylase 6A). (Source: Annals of Allergy, Asthma and Immunology)
Source: Annals of Allergy, Asthma and Immunology - November 1, 2020 Category: Allergy & Immunology Authors: T. Ahn, M. Garcia-Lloret Source Type: research

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 dysmorp...
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 developmental...
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

Interannular bridge: a novel approach to address congenital mitral regurgitation.
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] (Source: The Annals of Thoracic Surgery)
Source: The Annals of Thoracic Surgery - February 27, 2020 Category: Cardiovascular & Thoracic Surgery Authors: Ishidou M, Ito H, Murata M, Hirose K, Ikai A, Sakamoto K Tags: Ann Thorac Surg Source Type: research

"RE: Lin JL, et al. 'Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.' Clin Genet. 2015;88(3):255-260".
"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] (Source: Clinical Genetics)
Source: Clinical Genetics - February 19, 2020 Category: Genetics & Stem Cells Authors: Lindsley AW Tags: Clin Genet Source Type: research

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
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 (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 16, 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

Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.
Abstract Kabuki syndrome (KS) is a rare congenital disorder characterized by distinctive facies, postnatal growth deficiency, cardiac defects and skeletal anomalies. Studies have determined that pathogenic variants of the lysine-specific methyltransferase 2D (KMT2D) and lysine-specific demethylase 6A (KDM6A) genes are the major causes of KS. The two genes encode different histone-modifying enzymes that are found in the same protein complex that is critical for cell differentiation during development. Here we report the results from next-generation sequencing of genomic DNA from 13 patients who had a clinical diagn...
Source: Gene - January 10, 2020 Category: Genetics & Stem Cells Authors: Yap CS, Shekhar Jamuar S, Lai AHM, Tan ES, Ng I, Ting TW, Tan EC Tags: Gene Source Type: research

Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
We present the first patient described with haploinsufficency ofKMT2D leading to Kabuki syndrome. Deletion ofKMT2D has been thought to be lethal, but here we describe a patient withKMT2D deletion and classical Kabuki syndrome phenotype. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 7, 2019 Category: Genetics & Stem Cells Authors: Teresa Romeo Luperchio, Carolyn D. Applegate, Olaf Bodamer, Hans Tomas Bjornsson Tags: LETTER TO THE EDITOR Source Type: research

Abnormal Peyer patch development and B-cell gut homing drive IgA deficiency in Kabuki syndrome
Kabuki syndrome (KS) is commonly caused by mutations in the histone-modifying enzyme lysine methyltransferase 2D (KMT2D). Immune dysfunction is frequently observed in individuals with KS, but the role of KMT2D in immune system function has not been identified. (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - December 5, 2019 Category: Allergy & Immunology Authors: Genay O. Pilarowski, Tareian Cazares, Li Zhang, Joel S. Benjamin, Ke Liu, Sajjeev Jagannathan, Nadeem Mousa, Jennifer Kasten, Artem Barski, Andrew W. Lindsley, Hans T. Bjornsson Source Type: research

Abnormal Peyer ’s patch development and B cell gut homing drive IgA deficiency in Kabuki syndrome
Capsule Summary: A Kabuki syndrome mouse model reveals fewer and smaller Peyer ’s patches and decreased Itgb7, a gene encoding a gut homing molecule, suggesting that disruption of immune gut function contributes to the Kabuki syndrome disease phenotype. (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - December 5, 2019 Category: Allergy & Immunology Authors: Genay O. Pilarowski, Tareian Cazares, Li Zhang, Joel S. Benjamin, Ke Liu, Sajjeev Jagannathan, Nadeem Mousa, Jennifer Kasten, Artem Barski, Andrew W. Lindsley, Hans T. Bjornsson Source Type: research

Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome.
Conclusions: The management of hip dislocation by conservative or surgical method showed successful results. Awareness of Kabuki syndrome could lead to an early diagnosis of this rare disease in patients with hip dislocation and allow for early detection of other underlying conditions and multidisciplinary management. PMID: 31788172 [PubMed - in process] (Source: Clinics in Orthopedic Surgery)
Source: Clinics in Orthopedic Surgery - December 5, 2019 Category: Orthopaedics Tags: Clin Orthop Surg Source Type: research

Changes in ocular motility in Kabuki syndrome.
Authors: Del Cerro I, Merino P, Gómez de Liaño P, Alan G Abstract Kabuki syndrome is a rare genetic disorder, caused by mutation in the KMT2D or KDM6A genes, which affects several organs in the majority of patients, among which are the eyes. The most typical clinical characteristics are mental retardation, postnatal growth retardation, skeletal anomalies, and characteristic facial features. As the eyes are affected in most of the cases, ophthalmological examination is recommended for the early detection of ocular anomalies, in order to prevent visual impairment. The most frequent ocular signs are stra...
Source: Archivos de la Sociedad Espanola de Oftalmologia - November 21, 2019 Category: Opthalmology Tags: Arch Soc Esp Oftalmol Source Type: research

Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature
This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectrum of 47 Chinese Kabuki syndrome (KS) patients. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 14, 2019 Category: Internal Medicine Authors: Huakun Shangguan, Chang Su, Qian Ouyang, Bingyan Cao, Jian Wang, Chunxiu Gong and Ruimin Chen Tags: Research Source Type: research

M296 a child with kabuki syndrome and coxsackie b type 5 meningoencephalomyelitis
Kabuki Syndrome is a disorder characterized by abnormal facial features, short stature, cardiac defects, and intellectual disability. Immunodeficiency is a lesser known feature. (Source: Annals of Allergy, Asthma and Immunology)
Source: Annals of Allergy, Asthma and Immunology - October 31, 2019 Category: Allergy & Immunology Authors: D. Cerrone, D. Yousif, S. Ward, M. Braskett Source Type: research

Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms.
CONCLUSIONS: Kabuki syndrome has a strong clinical and biological heterogeneity. The main pathogenesis of Kabuki syndrome is the imbalance between switch-on and -off of the chromatin. The direction of drug research may be to regulate the normal opening of chromatin. Small molecule inhibitors of histone deacetylases maybe helpful in treatment of mental retardation and reduce cancer risk in KS. PMID: 31587141 [PubMed - as supplied by publisher] (Source: World Journal of Pediatrics : WJP)
Source: World Journal of Pediatrics : WJP - October 4, 2019 Category: Pediatrics Authors: Wang YR, Xu NX, Wang J, Wang XM Tags: World J Pediatr Source Type: research

Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome
by Maria de los Angeles Serrano, Bradley L. Demarest, Tarlynn Tone-Pah-Hote, Martin Tristani-Firouzi, H. Joseph Yost Kabuki Syndrome patients have a spectrum of congenital disorders, including congenital heart defects, the primary determinant of mortality. Seventy percent of Kabuki Syndrome patients have mutations in the histone methyl-transferaseKMT2D. However, the underlying mechanisms that drive these congenital disorders are unknown. Here, we generated and characterized zebrafishkmt2d null mutants that recapitulate the cardinal phenotypic features of Kabuki Syndrome, including microcephaly, palate defects, abnormal ea...
Source: PLoS Biology: Archived Table of Contents - September 2, 2019 Category: Biology Authors: Maria de los Angeles Serrano Source Type: research

Orofacial features and medical profile of eight individuals with Kabuki syndrome.
CONCLUSIONS: There was a great diversity of oral, craniofacial and systemic characteristic among the KS patients, suggesting that an inter-disciplinary approach should be taken for their dental treatment. PMID: 31433389 [PubMed - as supplied by publisher] (Source: Medicina Oral, Patologia Oral y Cirugia Bucal)
Source: Medicina Oral, Patologia Oral y Cirugia Bucal - August 23, 2019 Category: ENT & OMF Tags: Med Oral Patol Oral Cir Bucal Source Type: research

Clinical course and management of adult-onset immune-mediated cytopenia associated with Kabuki syndrome.
PMID: 31427185 [PubMed - as supplied by publisher] (Source: European Journal of Internal Medicine)
Source: European Journal of Internal Medicine - August 15, 2019 Category: Internal Medicine Authors: Cantoni S, Fattizzo B Tags: Eur J Intern Med Source Type: research

Bilateral Congenital Corneal Opacities as an Early-Onset Ocular Feature of Kabuki Syndrome
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)
Source: Cornea - August 8, 2019 Category: Opthalmology Tags: Case Report Source Type: research

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
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)
Source: Genetics in Medicine - July 30, 2019 Category: Genetics & Stem Cells Authors: Henri Margot Guilaine Boursier Claire Duflos Elodie Sanchez Jeanne Amiel Jean-Christophe Andrau St éphanie Arpin Elise Brischoux-Boucher Odile Boute Lydie Burglen Charlotte Caille Yline Capri Patrick Collignon Sol ène Conrad Val érie Cormier-Daire Geof Source Type: research

Novel Heterozygous Variants in KMT2D Associated with Holoprosencephaly.
This article is protected by copyright. All rights reserved. PMID: 31282990 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 7, 2019 Category: Genetics & Stem Cells Authors: Tekendo-Ngongang C, Kruszka P, Martinez AF, Muenke M Tags: Clin Genet Source Type: research

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging [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 - July 2, 2019 Category: Genetics & Stem Cells Authors: Jeffries, A. R., Maroofian, R., Salter, C. G., Chioza, B. A., Cross, H. E., Patton, M. A., Dempster, E., Temple, I. K., Mackay, D. J. G., Rezwan, F. I., Aksglaede, L., Baralle, D., Dabir, T., Hunter, M. F., Kamath, A., Kumar, A., Newbury-Ecob, R., Selicor Tags: RESEARCH Source Type: research

Expression pattern of Kmt2d in murine craniofacial tissues
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 - June 21, 2019 Category: Genetics & Stem Cells Source Type: research

Expression pattern of Kmt2d in murine craniofacial tissues.
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 - June 18, 2019 Category: Genetics & Stem Cells Authors: Dong C, Umar M, Bartoletti G, Gahankari A, Fidelak L, He F Tags: Gene Expr Patterns Source Type: research

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging [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 - June 2, 2019 Category: Genetics & Stem Cells Authors: Jeffries, A. R., Maroofian, R., Salter, C. G., Chioza, B. A., Cross, H. E., Patton, M. A., Dempster, E., Karen Temple, I., Mackay, D., Rezwan, F. I., Aksglaede, L., Baralle, D., Dabir, T., Hunter, M. F., Kamath, A., Kumar, A., Newbury-Ecob, R., Selicorni, Tags: RESEARCH Source Type: research

Congenital Refractory Glaucoma: A New Ophthalmic Association of Kabuki Syndrome and its Management With Glaucoma Drainage Devices
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)
Source: Journal of Glaucoma - June 1, 2019 Category: Opthalmology Tags: Online Articles: Case Report/Small Case Series Source Type: research

Lysine demethylases KDM6A and UTY: The X and Y of histone demethylation
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 - May 7, 2019 Category: Genetics & Stem Cells Source Type: research

Comparative Analysis for the Performance of Variant Calling Pipelines on Detecting the de novo Mutations in Humans
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 - April 10, 2019 Category: Drugs & Pharmacology Source Type: research

Atypical Autoimmune Hematologic Disorders in a Patient With Kabuki Syndrome
We report the clinical case of a girl with Kabuki syndrome who developed autoimmune neutropenia, not previously reported, followed by hemolytic anemia and autoimmune thrombocytopenia. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - February 21, 2019 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

GSE126167 KMT2D loss disrupts cell cycle and hypoxic responses in neurodevelopmental models of Kabuki syndrome
Series Type : Expression profiling by high throughput sequencing ; Genome binding/occupancy profiling by high throughput sequencingOrganism : Mus musculusThis SuperSeries is composed of the SubSeries listed below. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - February 7, 2019 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Genome binding/occupancy profiling by high throughput sequencing Mus musculus Source Type: research

GSE126027 Single-cell transcription profiling in KS1 patient iPSCs and NPCs
Contributors : Giovanni A Carosso ; Jonathan J Augustin ; Loyal A Goff ; Briana L WinerSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensWe conducted single-cell RNA-seq (scRNA-seq) in human-derived induced pluripotent stem cells (iPSCs) and neural progenitor cells (NPCs) generated from Kabuki syndrome 1 (KS1) patients and healthy controls (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - February 4, 2019 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research

Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report
Kabuki syndrome (KS) is a rare congenital anomaly syndrome affecting multiple organs. Two genes have been shown to be mutated in patients with KS: lysine (K)-specific demethylase 6A (KDM6A) and lysine (K)-spec... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - December 3, 2018 Category: Genetics & Stem Cells Authors: Zhimei Guo, Fang Liu and Hai Jun Li Tags: Case report Source Type: research

Anatomical and functional abnormalities on MRI in kabuki syndrome
Publication date: Available online 19 November 2018Source: NeuroImage: ClinicalAuthor(s): Jennifer Boisgontier, Jean Marc Tacchella, Hervé Lemaître, Natacha Lehman, Ana Saitovitch, Vincent Gatinois, Guilaine Boursier, Elodie Sanchez, Elza Rechtman, Ludovic Fillon, Stanislas Lyonnet, Kim-Hanh Le Quang Sang, Genevieve Baujat, Marlene Rio, Odile Boute, Laurence Faivre, Elise Schaefer, Damien Sanlaville, Monica Zilbovicius, David GreventAbstractKabuki syndrome (KS) is a rare congenital disorder (1/32000 births) characterized by distinctive facial features, intellectual disability, short stature, and dermatoglyphic...
Source: NeuroImage: Clinical - November 21, 2018 Category: Radiology Source Type: research