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 23, 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 28, 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 17, 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 11, 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 8, 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 ’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 6, 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 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 6, 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 - November 1, 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 5, 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 3, 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 16, 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 31, 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 8, 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 3, 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 19, 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 3, 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 11, 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

The Complex Role of KDM6A in B-Cell Development and Function
We examined the effect of the loss of KDM6A expression on germinal center (GC) formation in the spleen following immunization with NP-CGG (4-Hydroxy-3-nitrophenylacetyl-Chicken Gamma Globulin, Ratio 16). Two weeks after NP-CGG immunization, we observed a significant decrease in follicular B-cells (FO) and a significant increase in GC B-cells as compared to wildtype littermates (Figure 1). The result is significant as GC B-cells are thought to be the cell-of-origin of follicular and DLBCL.To determine if inactivation of KDM6A affected antibody production, we measured IgM, IgG, IgE and IgA levels by ELISA from serum isolated...
Source: Blood - November 21, 2018 Category: Hematology Authors: Tian, L., Chavez, M., Wartman, L. D. Tags: 203. Lymphocytes, Lymphocyte Activation, and Immunodeficiency, including HIV and Other Infections: B and T Cell Biology Source Type: research

Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome
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)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 28, 2018 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Pulmonary Manifestations of Common Variable Immunodeficiency
Common variable immunodeficiency (CVID) is associated with significant chronic lung disease. The purpose of this paper was to describe the clinical, radiologic, and pathologic findings of CVID-associated lung diseases. These include airways’ disease, interstitial lung disease, lymphoma, and mucosa-associated lymphoid tissue lymphoma. In addition, a genetic syndrome termed Kabuki syndrome results in CVID-like immune abnormalities. These patients may also present with CVID-associated lung disease. Awareness and precise identification of CVID-associated lung disease may allow for better assessment of prognosis and direc...
Source: Journal of Thoracic Imaging - October 26, 2018 Category: Radiology Tags: Infection Source Type: research

OP02.01: Prenatal ultrasound features in a case of Kabuki syndrome
Ultrasound in Obstetrics&Gynecology,Volume 52, Issue S1, Page 69-69, October 2018. (Source: Ultrasound in Obstetrics and Gynecology)
Source: Ultrasound in Obstetrics and Gynecology - October 16, 2018 Category: Radiology Authors: P. Liana, M.A. Moga, R. Sima, M. Poenaru, A. Stanescu, O. Dimienescu Source Type: research

Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype.
We report a 34-year-old male patient with a novel variant in KMT2D gene, which finally ended a quest for a diagnosis that was clinically suspected in the past, prior the molecular basis of Kabuki Syndrome (KS) was known. The patient showcases the multisystemic features, with involvement of all previously associated with KS body systems, presence of immune deficiency as well as autoimmune disorders, requiring three pancreatic transplants. We also report, for the first time to our knowledge, the presence of epidural lipomatosis and Hodgkin Lymphoma in a patient with KS. PMID: 30282051 [PubMed - as supplied by publisher]...
Source: Clinical Immunology - September 30, 2018 Category: Allergy & Immunology Authors: Kaiwar C, Kruisselbrink TM, Kudva YC, Klee EW, Pichurin P Tags: Clin Immunol Source Type: research

Systemic lupus erythematosus: A new autoimmune disorder in Kabuki syndrome.
We report a case of a 17-year-old Caucasian girl with syndromic features of clinically unrecognized Kabuki syndrome (KS), who developed systemic lupus erythematosus (SLE). Diagnosis of KS was established after whole exome sequencing (WES) and detection of de novo frameshift 1bp deletion in histone-lysine N-methyltransferase 2D gene (KMT2D). The pathogenic variant in exon 34 (c.8626delC: 55 reads C, 56 reads delC), has not been described previously and is predicted to truncate the protein (p.Gln2876Serfs*34) resulting in KMT2D loss of function. Notwithstanding that patients with KS have a substantial susceptibility to vario...
Source: European Journal of Medical Genetics - September 10, 2018 Category: Genetics & Stem Cells Authors: Arsov T, Sestan M, Cekada N, Frkovic M, Andrews D, He Y, Shen N, Vinuesa CG, Jelusic M Tags: Eur J Med Genet Source Type: research

Correction: “Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals”
Correction: “Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals”Correction: “Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals”, Published online: 11 August 2018; doi:10.1038/s41436-018-0126-1Correction: “Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals” (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 11, 2018 Category: Genetics & Stem Cells Authors: Kai Lee Yap Amy E. Knight Johnson David Fischer Priscilla Kandikatla Jacea Deml Viswateja Nelakuditi Sara Halbach George S. Jeha Lindsay C. Burrage Olaf Bodamer Valeria C. Benavides Andrea M. Lewis Sian Ellard Pratik Shah Declan Cody Alejandro Diaz Aishwa Source Type: research

Case report of patient with Kabuki syndrome and self-inflicted skin lesions
Kabuki syndrome is a congenital disorder with multiple anomalies and intellectual disabilities. People with Kabuki syndrome have mild to severe developmental delay and intellectual disability, as well as a higher incidence of anxiety, attention problems, obsessive-compulsive traits and autistic behaviors. Self-Inflicted Skin Lesions is a condition in which changes on the skin are solely produced by the patient ’s own actions. This usually occurs as a result or manifestation of various psychologic problems. (Source: Journal of the American Academy of Dermatology)
Source: Journal of the American Academy of Dermatology - August 2, 2018 Category: Dermatology Source Type: research

Genetic characteristics of patients with congenital hyperinsulinism
Purpose of review Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in infants and children. Early and appropriate recognition and treatment of hypoglycemia is vital to minimize neurocognitive impairment. Recent findings There are at least 11 known monogenic forms of hyperinsulinism and several associated syndromes. Molecular diagnosis allows for prediction of the effectiveness of diazoxide and the likelihood of focal hyperinsulinism. Inactivating mutations in the genes encoding the ATP-sensitive potassium channel (KATP hyperinsulinism) account for 60% of all identifiable mutations, includ...
Source: Current Opinion in Pediatrics - July 11, 2018 Category: Pediatrics Tags: ENDOCRINOLOGY AND METABOLISM: Edited by Sally Radovick Source Type: research

Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review
A 3-year-old Japanese girl treated for hypoplastic left heart syndrome and Dandy-Walker syndrome was diagnosed with Kabuki syndrome (KS) with a mutation of KMT2D; c.13285C>T:p.Q4429*. Concurrently, macrohematuria portended the diagnosis of Wilms tumor. Postoperative chemotherapy has achieved complete remission despite a prolonged and reduced regimen due to liver dysfunction and convulsions. Cancer predisposition has been suggested for KS due to oncogenic mutations in KMT2D or KDM6A. The first case of nephroblastoma exemplified the treatability of malignancies in KS patients, as shown in the 9 cases reviewed. Active scre...
Source: Journal of Pediatric Hematology Oncology - June 26, 2018 Category: Hematology Tags: Original Articles Source Type: research

A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report
Kabuki syndrome is characterized by distinctive facial features and varying degrees of growth retardation. It leads to malformations in skeletal, urogenital and cardiac structures; moreover, endocrine conditio... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 18, 2018 Category: Genetics & Stem Cells Authors: Jung-Eun Moon, Su-Jeong Lee and Cheol Woo Ko Tags: Case report Source Type: research

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals, Published online: 15 June 2018; doi:10.1038/s41436-018-0013-9Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 15, 2018 Category: Genetics & Stem Cells Authors: Kai Lee Yap Amy E. Knight Johnson David Fischer Priscilla Kandikatla Jacea Deml Viswateja Nelakuditi Sara Halbach George S. Jeha Lindsay C. Burrage Olaf Bodamer Valeria C. Benavides Andrea M. Lewis Sian Ellard Pratik Shah Declan Cody Alejandro Diaz Aishwa Source Type: research

Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and < b > < i > KDM6A < /i > < /b > Haploinsufficiency
Conclusion: These results demonstrate a higher than expected frequency of Turner syndrome among children with hyperinsulinism. Our data suggest that haploinsufficiency forKDM6A due to mosaic X chromosome monosomy may be responsible for hyperinsulinism in Turner syndrome.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 14, 2018 Category: Endocrinology Source Type: research

Cerebral Lymphoproliferation in a Patient with Kabuki Syndrome
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - May 30, 2018 Category: Allergy & Immunology Source Type: research

Clinical application of targeted next-generation sequencing on fetuses with congenital heart defects.
CONCLUSIONS: Targeted NGS of fetuses with isolated and non-isolated CHDs achieved a high diagnostic yield in our cohort, with an acceptable turnaround time for the prenatal setting. Our results have important implications for clinical management and genetic counseling. PMID: 29536580 [PubMed - as supplied by publisher] (Source: The Ultrasound Review of Obstetrics and Gynecology)
Source: The Ultrasound Review of Obstetrics and Gynecology - March 13, 2018 Category: Radiology Authors: Hu P, Qiao F, Wang Y, Meng L, Ji X, Luo C, Xu T, Zhou R, Zhang J, Yu B, Wang L, Wang T, Pan Q, Ma D, Liang D, Xu Z Tags: Ultrasound Obstet Gynecol Source Type: research

Neurobehavioral features in individuals with Kabuki syndrome
Molecular Genetics&Genomic Medicine, EarlyView. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 13, 2018 Category: Genetics & Stem Cells Authors: Cristina Caciolo , Paolo Alfieri , Giorgia Piccini , Maria Cristina Digilio , Francesca  Romana Lepri , Marco Tartaglia , Deny Menghini , Stefano Vicari Source Type: research