A case of Kabuki syndrome with a large palatal fistula and malocclusion
Publication date: Available online 30 August 2014 Source:Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology Author(s): Shuji Yoshida , Shion Saito , Isao Kamiyama , Aki Ito , Jun-ichi Tanaka Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by distinctive facial appearances, skeletal anomalies, abnormal dermatoglyphic patterns, mental retardation, and delayed growth. Patients with KS may show cleft palate and malocclusion that require treatment. However, active treatment procedures such as orthognathic surgery often cannot be performed because of mental retardation. Herei...
Source: Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology - October 12, 2014 Category: ENT & OMF Source Type: research
Opitz award winners focus on hemihyperplasia, Kabuki syndrome
(Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 15, 2014 Category: Genetics & Stem Cells Tags: the AJMG SEQUENCE Source Type: research
G.P.236: Two siblings with SMARD1, one of them being in “double trouble”
The elder sibling, a boy, had tight heel cords that were noted from the age of 4months. He also developed varus foot position of the feet. At 20months, he could pull himself to standing. Lower leg muscles were atrophic, the ankles were unstable. He did not have a full extension of his fingers when he was crawling, and his pincer grasp was immature. Deep tendon reflexes could not be elicited. He had pectus excavatum. Cognitive function was normal. Neurophysiological investigation was suggestive of a polyneuropathy of axonal type and with predominantly motor affection, involving both lower and upper extremities. The MRI of c...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: M. Rasmussen, B. Karime, I.L. Matthews, K. Ørstavik Source Type: research
Immunologic Assessment and KMT2D mutation detection in Kabuki Syndrome.
This study aimed to investigate the genetic defects in Kabuki syndrome and determine if immune status is related to recurrent otitis media. Fourteen patients from 12 unrelated families were enrolled in the nine-year study period (2005-2013). All had Kabuki faces, cleft palate, developmental delays, mental retardation, and short fifth finger. Recurrent otitis media (12/14) and hearing impairment (8/14) were also more common features. Immunologic analysis revealed lower memory CD19+ cells (11/13), lower memory CD4+ cells (8/13), undetectable anti-HBs antibodies (7/13), and antibody deficiency (7/13), including lower IgA (4),...
Source: Clinical Genetics - August 21, 2014 Category: Genetics & Stem Cells Authors: Lin JL, Lee WI, Huang JL, Chen PK, Chan KC, Lo LJ, You YJ, Shih YF, Tseng TY, Wu MC Tags: Clin Genet Source Type: research
Acute myocardial infarction in Kabuki syndrome: Chance occurrence or a novel risk factor for premature atherosclerosis?
(Source: International Journal of Cardiology)
Source: International Journal of Cardiology - July 12, 2014 Category: Cardiology Authors: Robin A.P. Weir, Angela F. Alston, Mohammed Al-Dalla Ali Source Type: research
Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/- palate
Conclusions
The frequency of an associated complex developmental disorder following an otherwise reassuring fetal ultrasound is around 15%. A few diagnoses could be suspected at the antenatal assessment based on family history or exposures. Our study is lacking comprehensive assessment on the yield of genomic microarray testing for this population. (Source: Archives of Disease in Childhood - Fetal and Neonatal Edition)
Source: Archives of Disease in Childhood - Fetal and Neonatal Edition - June 12, 2014 Category: Perinatology & Neonatology Authors: Burnell, L., Verchere, C., Pugash, D., Loock, C., Robertson, S., Lehman, A. Tags: Clinical genetics, Congenital heart disease, Drugs: CNS (not psychiatric), Pregnancy, Reproductive medicine, Ophthalmology, Child and adolescent psychiatry (paedatrics), Child health, Autism, Pervasive developmental disorder, Radiology, Dentistry and oral Source Type: research
An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome.
This report demonstrates that clinical follow-up and molecular genetic testing can be useful for establishing the correct diagnosis.
PMID: 24862881 [PubMed - as supplied by publisher] (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - May 23, 2014 Category: Genetics & Stem Cells Authors: Verhagen JM, Oostdijk W, Terwisscha van Scheltinga CE, Schalij-Delfos NE, van Bever Y Tags: Eur J Med Genet Source Type: research
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome
We report on a male with developmental delays, cleft palate, craniofacial dysmorphism, hypotonia, and central nervous system anomalies including diminished white matter with thinning of the corpus callosum. Exome sequencing revealed a de novo mutation in ANKRD11, c.2606_2608delAGA, predicting p.Lys869del and an additional, de novo mutation, c.2353T>C, predicting p.Tyr785His in KDM1A, a gene not previously associated with a human phenotype. We describe this child as the first report of a deleterious sequence variant in KDM1A and hypothesize that his phenotype resulted from the combined effect of both mutations. © 2014 W...
Source: American Journal of Medical Genetics Part A - May 16, 2014 Category: Genetics & Stem Cells Authors: Sanjin Tunovic, James Barkovich, Elliott H. Sherr, Anne M. Slavotinek Tags: Clinical Report Source Type: research
A three generation X‐linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A
In this report, we describe two brothers with a mutation in KDM6A inherited from their mother and maternal grandmother. The two boys have Kabuki‐like phenotypes whereas the mother and grandmother present with attenuated phenotypes. This family represents the first instance of hereditary X‐linked Kabuki syndrome. We present a short literature review of the patients described with a mutation in KDM6A. © 2014 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 24, 2014 Category: Genetics & Stem Cells Authors: Damien Lederer, Debbie Shears, Valérie Benoit, Christine Verellen‐Dumoulin, Isabelle Maystadt Tags: Clinical Report Source Type: research
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients
This article is protected by copyright. All rights reserved (Source: Human Mutation)
Source: Human Mutation - March 1, 2014 Category: Genetics & Stem Cells Authors: Lucia Micale, Bartolomeo Augello, Claudia Maffeo, Angelo Selicorni, Federica Zucchetti, Carmela Fusco, Pasquelena De Nittis, Maria Teresa Pellico, Barbara Mandriani, Rita Fischetto, Loredana Boccone, Margherita Silengo, Elisa Biamino, Chiara Perria, Stefa Tags: Research Article Source Type: research
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).
We describe seven patients with KDM6A (located on Xp11.3 and encodes UTX) mutations, a rare cause of Kabuki syndrome (KS2, MIM 300867) and report, for the first time, germ-line missense and splice-site mutations in the gene. We demonstrate that less than 5% cases of Kabuki syndrome are due to KDM6A mutations. Our work shows that similar to the commoner Type 1 Kabuki syndrome (KS1, MIM 147920) caused by KMT2D (previously called MLL2) mutations, KS2 patients are characterized by hypotonia and feeding difficulties during infancy and poor postnatal growth and short stature. Unlike KS1, developmental delay and learning disabili...
Source: Clinical Genetics - February 14, 2014 Category: Genetics & Stem Cells Authors: Banka S, Lederer D, Benoit V, Jenkins E, Howard E, Bunstone S, Kerr B, McKee S, Chris Lloyd I, Shears D, Stewart H, White SM, Savarirayan R, Mancini GM, Beysen D, Cohn RD, Grisart B, Maystadt I, Donnai D Tags: Clin Genet Source Type: research
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene
Conclusion:
We report a patient affected by KS, with a novel MLL2 mutation and an atypical phenotype characterized by left-side bronchial isomerism. Interestingly, genes involved in the heterotaxia/isomerism such as ROCK2 and SHROOM3 are known to interact with MLL2 gene. In order to achieve a correct diagnosis and an appropriate therapy, the presence of pulmonary anatomical variations should be investigated in KS patients with respiratory signs not associated to immunological deficiency. Finally, our findings support the hypothesis that the mutations leading to a complete loss of function of MLL2 gene is often associated w...
Source: BMC Medical Genetics - Latest articles - January 28, 2014 Category: Genetics & Stem Cells Authors: Gerarda CappuccioAlessandro RossiPaolo FontanaEmma AcamporaValeria AvolioGiuseppe MerlaLeopoldo ZelanteAurelio SecinaroGeneroso AndriaDaniela Melis Source Type: research
Autoimmune haematological disorders in two Italian children with Kabuki Syndrome
Kabuki syndrome (also called Niikawa-Kuroki syndrome) is a rare genetic disease described for the first time in Japan, characterised by anomalies in multiple organ systems and often associated with autoimmune disorders and impaired immune response. We herein report the clinical history, the therapeutic approach and the outcome of two children with Kabuki syndrome who developed autoimmune haematological disorders (haemolytic anaemia and immune thrombocytopenia). Factors regarding differential diagnosis and interventions in better management of this syndrome and its complications are discussed. This is the first report of It...
Source: Italian Journal of Pediatrics - January 25, 2014 Category: Pediatrics Authors: Paola GiordanoGiuseppe LassandroMaria SangerardiMaria Felicia FaienzaFederica ValenteBaldassarre Martire Source Type: research
Hypoglycemia in Kabuki syndrome
We report on four patients with KS presenting with persistent hypoglycemia. Hyperinsulinemic hypoglycemia was the cause of hypoglycemia in two out of four patients and one patient had growth hormone deficiency. The mechanism of the hypoglycemia in one patient is still unclear. Three out of these four patients were found to have mutation in the MLL2 gene. Our observations suggest that patients with KS may have hypoglycemia due to different mechanisms and that MLL2 gene may have a role in glucose physiology. © 2013 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - December 5, 2013 Category: Genetics & Stem Cells Authors: Anbezhil Subbarayan, Khalid Hussain Tags: Clinical Report Source Type: research
Lower Lip Pits: Van der Woude or Kabuki Syndrome?
This report describes two patients who were initially diagnosed with Van der Woude syndrome (VWS) based on the presence of lower lip pits. However, this finding can occur with KS, albeit infrequently. For patients with lower lip pits, a thorough evaluation should be made to distinguish between VWS and KS, as there are differences in long-term prognosis.
PMID: 24088119 [PubMed - as supplied by publisher] (Source: The Cleft Palate-Craniofacial Journal)
Source: The Cleft Palate-Craniofacial Journal - October 2, 2013 Category: ENT & OMF Authors: David-Paloyo FP, Yang X, Lin JL, Wong FH, Wu-Chou YH, Lo LJ Tags: Cleft Palate Craniofac J Source Type: research
