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Kabuki syndrome

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https://www.readbyqxmd.com/read/27922244/a-novel-de-novo-mutation-involving-the-mll2-gene-in-a-kabuki-syndrome-patient-presenting-with-seizures
#1
Can Ebru Bekircan-Kurt, Pelin Özlem Şimşek-Kiper, Koray Boduroğlu, Neşe Dericioğlu
Kabuki syndrome is a rare multiple congenital anomaly disorder. Although mental retardation is one of the main features, various neurological symptoms such as hypotonia and seizures can occur. Here we report on a 18-year-old Turkish male patient who was diagnosed previously as Kabuki syndrome. Molecular genetic analysis showed a novel de novo heterozygous mutation (c.12964C > T [p.Gln4322*] ) in the MLL2 gene, that leads to the synthesis of a truncated protein. The aim of the present report is to increase the awareness of Kabuki Syndrome among adult neurologists and to present a previously unreported non-sense mutation in the MLL2 gene...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27834868/steric-clash-in-the-set-domain-of-histone-methyltransferase-nsd1-as-a-cause-of-sotos-syndrome-and-its-genetic-heterogeneity-in-a-brazilian-cohort
#2
Kyungsoo Ha, Priya Anand, Jennifer A Lee, Julie R Jones, Chong Ae Kim, Debora Romeo Bertola, Jonathan D J Labonne, Lawrence C Layman, Wolfgang Wenzel, Hyung-Goo Kim
Most histone methyltransferases (HMTase) harbor a predicted Su(var)3-9, Enhancer-of-zeste, Trithorax (SET) domain, which transfers a methyl group to a lysine residue in their substrates. Mutations of the SET domains were reported to cause intellectual disability syndromes such as Sotos, Weaver, or Kabuki syndromes. Sotos syndrome is an overgrowth syndrome with intellectual disability caused by haploinsufficiency of the nuclear receptor binding SET domain protein 1 (NSD1) gene, an HMTase at 5q35.2-35.3. Here, we analyzed NSD1 in 34 Brazilian Sotos patients and identified three novel and eight known mutations...
November 9, 2016: Genes
https://www.readbyqxmd.com/read/27799067/identification-of-a-rai1-associated-disease-network-through-integration-of-exome-sequencing-transcriptomics-and-3d-genomics
#3
Maria Nicla Loviglio, Christine R Beck, Janson J White, Marion Leleu, Tamar Harel, Nicolas Guex, Anne Niknejad, Weimin Bi, Edward S Chen, Isaac Crespo, Jiong Yan, Wu-Lin Charng, Shen Gu, Ping Fang, Zeynep Coban-Akdemir, Chad A Shaw, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Jacques Rougemont, Ioannis Xenarios, James R Lupski, Alexandre Reymond
BACKGROUND: Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resulting from haploinsufficiency of RAI1. It is characterized by distinctive facial features, brachydactyly, sleep disturbances, and stereotypic behaviors. METHODS: We investigated a cohort of 15 individuals with a clinical suspicion of SMS who showed neither deletion in the SMS critical region nor damaging variants in RAI1 using whole exome sequencing. A combination of network analysis (co-expression and biomedical text mining), transcriptomics, and circularized chromatin conformation capture (4C-seq) was applied to verify whether modified genes are part of the same disease network as known SMS-causing genes...
November 1, 2016: Genome Medicine
https://www.readbyqxmd.com/read/27778401/pilomatricoma-associated-with-kabuki-syndrome
#4
Fanny-Emmanuelle Bernier, Ariane Schreiber, Jérome Coulombe, Afshin Hatami, Danielle Marcoux
We report three cases of pilomatricomas associated with Kabuki syndrome (KS), supporting the hypothesis proposed of an association between pilomatricomas and KS and suggesting a noncoincidental association, because the Wnt pathway mutations involved could affect both morphogenesis and tumorigenesis in these patients.
October 25, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27777708/persistent-hyperinsulinism-in-kabuki-syndrome-2-case-report-and-literature-review
#5
Hobia Gole, Raymond Chuk, David Coman
Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated with Kabuki syndrome i.e., KMT2D and KDM6A, which are responsible for Kabuki syndrome 1 and Kabuki syndrome 2, respectively. Hypoglycemia is thought to be a rare manifestation of Kabuki syndrome; however it may be under diagnosed. Herein we describe the case of a 5-year-old girl with Kabuki syndrome 2 in whom persistent hyperinsulinism was diagnosed at 4 years of age...
August 8, 2016: Clinics and Practice
https://www.readbyqxmd.com/read/27760969/-spontaneous-infection-of-an-atrophic-ureter-with-an-ectopic-ureteral-opening-after-living-donor-renal-transplantation-in-a-patient-with-kabuki-syndrome
#6
Kohei Naoki, Hideaki Takada, Kosuke Hishiki, Yoshiharu Nakashima, Koji Yoshimura, Yasunori Nishio, Kenta Ito, Ken Matsuo, Noriko Mori
A 24-year-old woman with a high fever presented at our hospital. She had been diagnosed with Kabuki syndrome at the age of 4 years because she had the typical facial features of the condition ; she had undergone living donor renal transplantation 12 years prior. She was prescribed a course of antibiotics to treat pyelonephritis of the transplanted kidney and the high fever disappeared, but the fever developed again 3 days after the discharge. Abdominal computed tomography revealed a tubular structure of recent onset running from the left dorsal side to the lower part of the bladder...
September 2016: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/27689058/kabuki-syndrome-with-cleft-palate
#7
Joo Myong Paik, So Young Lim
No abstract text is available yet for this article.
September 2016: Archives of Plastic Surgery
https://www.readbyqxmd.com/read/27649541/growth-hormone-stimulation-tests-in-children-with-kabuki-syndrome
#8
Dina A Schott, Willem J M Gerver, Constance T R M Stumpel
BACKGROUND/AIMS: Kabuki syndrome is a multiple congenital malformation syndrome with a variety of clinical features including short stature. The cause of this postnatal short stature remains unknown. METHODS: Eighteen children with genetically proven Kabuki syndrome (8 boys and 10 girls; ages 3.3-9.9 years, with a mean of 6.7 years) who underwent growth hormone (GH) stimulation tests were evaluated in a prospective study. Two GH stimulation tests were conducted, including insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP-3) serum levels...
September 21, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27573763/a-novel-kmt2d-mutation-resulting-in-kabuki-syndrome-a-case-report
#9
Jun Lu, Guiling Mo, Yaojun Ling, Lijuan Ji
Kabuki syndrome (KS) is a rare genetic syndrome characterized by multiple congenital anomalies and varying degrees of mental retardation. Patients with KS often present with facial, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies and immunological defects. Mutation of the lysine methyltransferase 2D (KMT2D) gene (formerly known as MLL2) is the primary cause of KS. The present study reported the case of a 4‑year‑old Chinese girl who presented with atypical KS, including atypical facial features, unclear speech and suspected mental retardation...
October 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27568880/kabuki-syndrome-as-a-cause-of-non-immune-fetal-hydrops-ascites
#10
Ashleigh Long, Elena S Sinkovskaya, Andrew C Edmondson, Elaine Zackai, Samantha A Schrier Vergano
Kabuki syndrome (MIM 147920) is a well-described, multiple congenital anomaly syndrome characterized by growth and developmental delay, cardiac, renal, and vertebral anomalies, as well as persistent fetal finger pads and distinct facial features. Facies are characterized by long palpebral fissures with eversion of lateral third of the lower eyelid, resembling the "Kabuki make-up" theatre genre after which the syndrome is named. Kabuki syndrome is estimated to affect 1/32,000 births, with 55-80% of patients showing nonsense or frameshift mutations in the KMT2D (MLL2) gene, which encodes a histone transferase located on chromosome 12q...
August 29, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27562378/variations-in-multiple-syndromic-deafness-genes-mimic-non-syndromic-hearing-loss
#11
G Bademci, F B Cengiz, J Foster Ii, D Duman, L Sennaroglu, O Diaz-Horta, T Atik, T Kirazli, L Olgun, H Alper, I Menendez, I Loclar, G Sennaroglu, S Tokgoz-Yilmaz, S Guo, Y Olgun, N Mahdieh, M Bonyadi, N Bozan, A Ayral, F Ozkinay, M Yildirim-Baylan, S H Blanton, M Tekin
The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D)...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27530281/an-unusual-presentation-of-kabuki-syndrome-with-orbital-cysts-microphthalmia-and-cholestasis-with-bile-duct-paucity
#12
Nina Bögershausen, Umut Altunoglu, Filippo Beleggia, Gökhan Yigit, Hülya Kayserili, Peter Nürnberg, Yun Li, Janine Altmüller, Bernd Wollnik
Kabuki syndrome (KS) is a rare developmental disorder characterized by multiple congenital malformations, postnatal growth retardation, intellectual disability, and recognizable facial features. It is mainly caused by mutations in either KMT2D or KDM6A. We describe a 14-year-old boy with KS presenting with an unusual combination of bilateral microphthalmia with orbital cystic venous lymphatic malformation and neonatal cholestasis with bile duct paucity, in addition to the typical clinical features of KS. We identified the novel KMT2D mutation c...
December 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27530205/growth-pattern-in-kabuki-syndrome-with-a-kmt2d-mutation
#13
Dina A Schott, Marinus J Blok, Willem J M Gerver, Koenraad Devriendt, Luc J I Zimmermann, Constance T R M Stumpel
Kabuki syndrome is a multiple congenital malformation syndrome with a spectrum of clinical features including short stature. Since there is no growth data on Kabuki syndrome patients with a proven KMT2D gene mutation, further research on growth and growth patterns is indicated. Data for this growth study on subjects with Kabuki syndrome were collected from referring clinicians. Subjects were eligible for inclusion in the study if the following criteria were met: a genetically confirmed diagnosis of Kabuki syndrome and no current treatment with growth hormones or other drugs that could influence growth...
August 17, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27481565/typical-facial-gestalt-in-x-linked-kabuki-syndrome
#14
Henri Margot, David Geneviève, Vincent Gatinois, Benoit Arveiler, Sébastien Moutton, Isabelle Touitou, Didier Lacombe
No abstract text is available yet for this article.
August 2, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27341000/cochlear-implantation-in-a-patient-with-kabuki-syndrome
#15
Annemarie Vesseur, Eva Cillessen, Emmanuel Mylanus
Criteria for cochlear implants are expanding and now include children with disabilities in addition to hearing loss, such as those with Kabuki syndrome (KS). This case report describes language outcomes and changes in the quality of life of a female child with KS after cochlear implantation. The subject had a profound progressive sensorineural hearing loss, cognitive impairments, and other disabilities and communicated using vocalized sounds and the Dutch Sign Language. After cochlear implantation at an age of nine years and three months, the patient displayed no progress in speech production and minimal progress in receptive language development, but she had an increased awareness of the world and an increase in the quality of life...
April 2016: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/27302555/mutation-update-for-kabuki-syndrome-genes-kmt2d-and-kdm6a-and-further-delineation-of-x-linked-kabuki-syndrome-subtype-2
#16
Nina Bögershausen, Vincent Gatinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Simsek-Kiper, Mouna Barat-Houari, Nursel H Elcioglu, Dagmar Wieczorek, Sigrid Tinschert, Guillaume Sarrabay, Tim M Strom, Aurélie Fabre, Gareth Baynam, Elodie Sanchez, Gudrun Nürnberg, Umut Altunoglu, Yline Capri, Bertrand Isidor, Didier Lacombe, Carole Corsini, Valérie Cormier-Daire, Damien Sanlaville, Fabienne Giuliano, Kim-Hanh Le Quan Sang, Honorine Kayirangwa, Peter Nürnberg, Thomas Meitinger, Koray Boduroglu, Barbara Zoll, Stanislas Lyonnet, Andreas Tzschach, Alain Verloes, Nataliya Di Donato, Isabelle Touitou, Christian Netzer, Yun Li, David Geneviève, Gökhan Yigit, Bernd Wollnik
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations, and a variable degree of intellectual disability. Mutations in KMT2D have been identified as the main cause for KS, whereas mutations in KDM6A are a much less frequent cause. Here, we report a mutation screening in a case series of 347 unpublished patients, in which we identified 12 novel KDM6A mutations (KS type 2) and 208 mutations in KMT2D (KS type 1), 132 of them novel...
September 2016: Human Mutation
https://www.readbyqxmd.com/read/27275756/bronchus-associated-lymphoid-tissue-in-kabuki-syndrome-with-associated-hyper-igm-syndrome-common-variable-immunodeficiency
#17
Jason R Mock, Todd M Kolb, Peter B Illei, Stephen C Yang, Howard M Lederman, Christian A Merlo
No abstract text is available yet for this article.
August 15, 2016: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/27066327/dermatoglyphics-in-kidney-diseases-a-review
#18
REVIEW
Buddhika T B Wijerathne, Robert J Meier, Sujatha S Salgado, Suneth B Agampodi
Kidney diseases are becoming a major cause of global burden with high mortality and morbidity. The origins of most kidney diseases are known, but for some the exact aetiology is not yet understood. Dermatoglyphics is the scientific study of epidermal ridge patterns and it has been used as a non-invasive diagnostic tool to detect or predict different medical conditions that have foetal origin. However, there have been a limited number of studies that have evaluated a dermatoglyphic relationship in different kidney diseases...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27028180/de-novo-exonic-deletion-of-kdm6a-in-a-chinese-girl-with-kabuki-syndrome-a-case-report-and-brief-literature-review
#19
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
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...
June 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26954065/a-de-novo-frameshift-in-hnrnpk-causing-a-kabuki-like-syndrome-with-nodular-heterotopia
#20
L Lange, A T Pagnamenta, S Lise, S Clasper, H Stewart, E S Akha, G Quaghebeur, S J L Knight, D A Keays, J C Taylor, U Kini
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)...
September 2016: Clinical Genetics
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