Bronchus Associated Lymphoid Tissue in Kabuki Syndrome with Associated Hyper-IgM Syndrome/Common Variable Immunodeficiency.
PMID: 27275756 [PubMed - as supplied by publisher] (Source: American Journal of Respiratory and Critical Care Medicine)
Source: American Journal of Respiratory and Critical Care Medicine - June 7, 2016 Category: Respiratory Medicine Authors: Mock JR, Kolb TM, Illei PB, Yang SC, Lederman HM, Merlo CA Tags: Am J Respir Crit Care Med Source Type: research
De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review
Kabuki syndrome (KS) is a rare condition with multiple congenital anomalies and mental retardation. Exonic deletions, disrupting the lysine (K)‐specific demethylase 6A (KDM6A) gene have been demonstrated as rare cause of KS. Here, we report a de novo 227‐kb deletion in chromosome Xp11.3 of a 7‐year‐old Chinese girl with KS. Besides the symptoms of KS, the patient also presented with skin allergic manifestations, which were considered to be a new, rare feature of the phenotypic spectrum. The deletion includes the upstream region and exons 1–2 of KDM6A and potentially causes haploinsuffiency of the gene. We also di...
Source: American Journal of Medical Genetics Part A - March 29, 2016 Category: Genetics & Stem Cells Authors: Pu Yang, Hu Tan, Yan Xia, Qian Yu, Xianda Wei, Ruolan Guo, Ying Peng, Chen Chen, Haoxian Li, Libin Mei, Yanru Huang, Desheng Liang, Lingqian Wu Tags: Clinical Report Source Type: research
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.
Abstract
Kabuki syndrome is a heterogeneous condition characterized by distinctive facial features, intellectual disability, growth retardation, skeletal abnormalities and a range of organ malformations. Although at least two major causative genes have been identified, these do not explain all cases. Here we describe a patient with a complex Kabuki-like syndrome that included nodular heterotopia, in whom testing for several single gene disorders had proved negative. Exome sequencing uncovered a de novo c.931_932insTT variant in HNRNPK (heterogeneous nuclear ribonucleoprotein K). Although this variant was i...
Source: Clinical Genetics - March 8, 2016 Category: Genetics & Stem Cells Authors: Lange L, Pagnamenta AT, Lise S, Clasper S, Stewart H, Akha ES, Quaghebeur G, Knight SJ, Keays DA, Taylor JC, Kini U Tags: Clin Genet Source Type: research
Humoral deficiency in three paediatric patients with genetic diseases.
CONCLUSIONS: Patients with genetic abnormalities and recurrent infections should be evaluated for hypogammaglobulinaemia. An early diagnosis of humoral deficiency can allow treatment optimisation to prevent complications and sequelae.
PMID: 26947896 [PubMed - as supplied by publisher] (Source: Allergologia et Immunopathologia)
Source: Allergologia et Immunopathologia - February 29, 2016 Category: Allergy & Immunology Authors: Calvo Campoverde K, Gean E, Piquer Gibert M, Martinez Valdez L, Deyà-Martínez A, Rojas Volquez M, Esteve-Sole A, Juan M, Plaza AM, Alsina L Tags: Allergol Immunopathol (Madr) Source Type: research
Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited
We report a case of a 12‐year‐old girl with Kabuki syndrome who developed a tumor on the right side of her neck. A relapsing tumor 19 months after initial excision, proved to be giant cell fibroblastoma. Τhis is the first report of giant cell fibroblastoma ‐a rare tumor of childhood‐ in a patient with Kabuki syndrome. © 2016 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - February 22, 2016 Category: Genetics & Stem Cells Authors: Paraskevi Karagianni, Vassilios Lambropoulos, Dorothea Stergidou, Helena Fryssira, Ilias Chatziioannidis, Ioannis Spyridakis Tags: Clinical Report Source Type: research
Molecular genetic analysis in 14 czech kabuki syndrome patients is confirming the utility of phenotypic scoring.
Abstract
Kabuki syndrome (KS) is a dominantly inherited disorder mainly due to de novo pathogenic variation in KMT2D or KDM6A genes. Initially, a representative cohort of 14 Czech cases with clinical features suggestive of KS was analyzed by experienced clinical geneticists in collaboration with other specialties, and observed disease features were evaluated according to the "MLL2-Kabuki score" defined by Makrythanasis et al. Subsequently, the aforementioned genes were Sanger sequenced and copy number variation analysis was performed by MLPA, followed by genome-wide array CGH testing. Pathogenic variants i...
Source: Clinical Genetics - February 4, 2016 Category: Genetics & Stem Cells Authors: Paděrová J, Holubová A, Simandlová M, Puchmajerová A, Vlčková M, Malíková M, Pourová R, Vejvalková S, Havlovicová M, Šenkeříková M, Ptáková N, Drábová J, Geryk J, Maver A, Křepelová A, Macek M Tags: Clin Genet Source Type: research
Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis.
Authors: Gürbüz F, Özalp Yüreğir Ö, Ceylaner S, Topaloğlu AK, Yüksel B
PMID: 26757828 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research
Unusual Endoscopic Findings in Children: Esophageal and Gastric Polyps: Three Cases Report
Abstract: Isolated polyps of the upper digestive tract are rarely diagnosed in children, being usually an incidental finding during endoscopic exploration.
The diagnostic, therapy, and outcome of these lesions are based on endoscopy and pathology.
In a 5-year period, clinical features, topography, size, pathology, therapeutics, and progression of esophagogastric polyps founded in children addressed to our pediatric gastroenterology unit were studied.
The authors encountered 3 lesions in teenagers aged 13 to 17 years two males (2M), from a total number of 2140 upper digestive endoscopies (0.14%). All patients presented w...
Source: Medicine - January 1, 2016 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Mild humoral immunodeficiency in a patient with X‐linked Kabuki syndrome
(Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - December 25, 2015 Category: Genetics & Stem Cells Authors: Glynis Frans, Isabelle Meyts, Koen Devriendt, Adrian Liston, François Vermeulen, Xavier Bossuyt Tags: Research Letter Source Type: research
The strong association of left-side heart anomalies with Kabuki syndrome.
CONCLUSION: Pediatric cardiologist should recognize Kabuki syndrome and the high prevalence of left heart anomalies with Kabuki syndrome. Genetic testing can be helpful for early diagnosis and counseling.
PMID: 26300940 [PubMed] (Source: Korean Journal of Pediatrics)
Source: Korean Journal of Pediatrics - November 19, 2015 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Kabuki syndrome: clinical and molecular characteristics.
Authors: Cheon CK, Ko JM
Abstract
Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct Sanger sequencing and exome sequencing revealed KMT2D variants in 11 Korean patients and a KDM6A variant in one Korean patient. The high detec...
Source: Korean Journal of Pediatrics - November 19, 2015 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Body proportions in children with Kabuki syndrome
This study was designed and conducted within the setting of the Maastricht University Medical Centre (MUMC+), the official Dutch expert center for Kabuki syndrome. We conducted a cross‐sectional study in 32 children (11 children with KS and 21 controls). Body proportions were determined by means of photogrammetric anthropometry, measurements based on digital photography. Body proportions, quantified as body ratios, differ significantly in children with KS from normally proportioned children. Children with KS have larger heads and longer arms proportional to their trunks and have been found to have longer upper arms propo...
Source: American Journal of Medical Genetics Part A - November 9, 2015 Category: Genetics & Stem Cells Authors: Bas Penders, Nina Schott, Willem‐Jan M. Gerver, Constance T. R. M. Stumpel Tags: Research Article Source Type: research
Giant cell hepatitis with Coombs-positive hemolytic anemia: Possible association with Kabuki syndrome?
A 7-month-old infant presented with acute hemolytic anemia characterized by severe pallor, hepatosplenomegaly, hemoglobin 4.6g/dl, total bilirubin 4.02mg/dl (unconjugated 2.29), positive direct Coombs’ test. The child received erythrocytes transfusion and therapy with high-dose of steroids, first intravenously and then orally. Laboratory showed also: AST 1088 U/l, ALT 1176 U/l, GGT 155 U/l, conjugated bilirubin 1.83mg/dl, LDH 2429 U/l, INR 1. Serological tests for HAV, HBV, HCV, EBV, CMV, HSV, Parvovirus B19, HIV were negative. (Source: Digestive and Liver Disease)
Source: Digestive and Liver Disease - October 8, 2015 Category: Gastroenterology Authors: F. Chiatto, G. Ranucci, F. Di Dato, V. Gallo, M.G. Puoti, M.I. Spagnuolo, R. Iorio Tags: P049 Source Type: research
Epigenetic control of the immune system: a lesson from Kabuki syndrome
Abstract
Kabuki syndrome (KS) is a rare multi-systemic disorder characterized by a distinct face, postnatal growth deficiency, mild-to-moderate intellectual disability, skeletal and visceral (mainly cardiovascular, renal, and skeletal) malformations, dermatoglyphic abnormalities. Its cause is related to mutations of two genes: KMT2D (histone-lysine
N-methyltransferase
2D) and KDM6A (lysine-specific
demethylase
6A), both functioning as epigenetic modulators through histone modifications in the co...
Source: Immunologic Research - September 28, 2015 Category: Allergy & Immunology Source Type: research
Spinal ependymoma in a patient with Kabuki syndrome: a case report
Conclusion:
Kabuki syndrome is not considered a cancer predisposition syndrome. Nonetheless, a number of tumors have been reported in patients with Kabuki syndrome. Spinal ependymoma is a rare disease in the pediatric and young adult population. Whereas NF2 mutations are frequently associated to ependymoma such an association has never been described in Kabuki syndrome. To our knowledge this is the first case of ependymoma in a KMT2D mutated Kabuki syndrome patient. Despite KMT2D role in cancer has previously been described, no genetic data are available for previously reported Kabuki syndrome patients with tumors. Nonethe...
Source: BMC Medical Genetics - September 5, 2015 Category: Genetics & Stem Cells Authors: Davide RomaPaolo PalmaRossella CapolinoLorenzo Figà-TalamancaFrancesca Diomedi-CamasseiFrancesca LepriMaria DigilioCarlo MarrasRaffaella MessinaAndrea CaraiFranco RandiAngela Mastronuzzi Source Type: research
