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 and skelet...
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 direction...
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 publish...
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”, 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 screeni...
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
