A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome [Genetics]
Kabuki syndrome is a Mendelian intellectual disability syndrome caused by mutations in either of two genes (KMT2D and KDM6A) involved in chromatin accessibility. We previously showed that an agent that promotes chromatin opening, the histone deacetylase inhibitor (HDACi) AR-42, ameliorates the deficiency of adult neurogenesis in the granule cell layer... (Source: Proceedings of the National Academy of Sciences)
Source: Proceedings of the National Academy of Sciences - January 2, 2017 Category: Science Authors: Joel S. Benjamin, Genay O. Pilarowski, Giovanni A. Carosso, Li Zhang, David. L. Huso, Loyal A. Goff, Hilary J. Vernon, Kasper D. Hansen, Hans T. Bjornsson Tags: Biological Sciences Source Type: research
Robotic surgery for atrial septal defect closure in a case of Kabuki syndrome.
Abstract
Kabuki syndrome is a rare congenital malformation syndrome characterized by mental retardation, skeletal deformities, auditory dysfunction, cardiac defects, and distinctive facial appearance. Although complex cardiovascular malformations present in early childhood, rarely, atrioventricular septal defects may also present in young adults. Presently described is case of a 22-year-old female with KS who presented with ostium secundum atrial septal defect with deficient rim and idiopathic thrombocytopenic purpura. In this case, minimally invasive robotic surgery was preferred for closure of atrial sep...
Source: Turk Kardiyoloji Dernegi arsivi - December 31, 2016 Category: Cardiology Authors: Onan B, Aydın Ü, Kahraman Z, Bakır İ Tags: Turk Kardiyol Dern Ars Source Type: research
A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures.
Abstract
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 unre...
Source: The Turkish Journal of Pediatrics - December 8, 2016 Category: Pediatrics Authors: Bekircan-Kurt CE, Şimşek-Kiper PÖ, Boduroğlu K, Dericioğlu N Tags: Turk J Pediatr Source Type: research
GSE90836 A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome
Contributors : Genay O Pilarowski ; Kasper D Hansen ; Hans T BjornssonSeries Type : Expression profiling by arrayOrganism : Mus musculusKabuki syndrome is a Mendelian intellectual disability syndrome caused by mutations in either of two genes (KMT2D and KDM6A) involved in chromatin accessibility. We previously showed that an agent that promotes chromatin opening, the histone deacetylase inhibitor (HDACi) AR-42, ameliorates the deficiency of adult neurogenesis in the granule cell layer of the dentate gyrus, and rescues hippocampal memory defects in a mouse model of Kabuki syndrome (Kmt2d+/ βGeo). Unlike a drug, a dietary i...
Source: GEO: Gene Expression Omnibus - December 3, 2016 Category: Genetics & Stem Cells Tags: Expression profiling by array Mus musculus Source Type: research
KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection
Choanal atresia is rarely reported in Kabuki syndrome, but is a common feature of CHARGE syndrome. Otherwise, the two conditions have a number of overlapping features, and the molecular links between them have recently been elucidated. Here, we report a case of a mother and her two children who presented with congenital choanal atresia. We performed whole exome sequencing on DNA from the mother and her two unaffected parents, and identified a de novo, novel variant in KMT2D. KMT2D p.Gln3575His segregated with disease status in the family, and is associated with a unique and conserved phenotype in the affected family member...
Source: American Journal of Medical Genetics Part A - November 6, 2016 Category: Genetics & Stem Cells Authors: Lauren Badalato, Sali M. K. Farhan, Allison A. Dilliott, , Dennis E. Bulman, Robert A. Hegele, Sharan L. Goobie Tags: Original Article Source Type: research
Identification of a RAI1 -associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics
ConclusionsThese holistic studies ofRAI1 and its interactions allow insights into SMS and other disorders associated with intellectual disability and behavioral abnormalities. Our findings support a pan-genomic approach to the molecular diagnosis of a distinctive disorder. (Source: Genome Medicine)
Source: Genome Medicine - October 31, 2016 Category: Genetics & Stem Cells Source Type: research
Kabuki Syndrome with Cleft Palate.
Authors: Paik JM, Lim SY
PMID: 27689058 [PubMed] (Source: Archives of Plastic Surgery)
Source: Archives of Plastic Surgery - October 1, 2016 Category: Cosmetic Surgery Tags: Arch Plast Surg Source Type: research
Growth Hormone Stimulation Tests in Children with Kabuki Syndrome
Conclusions: The utility of performing GH stimulation tests on Kabuki syndrome children as an indication of GH status in short stature is questionable. IGF-I levels did correlate neither with the GH stimulation peak nor consequently with the diagnosis of GH deficiency.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - September 20, 2016 Category: Endocrinology Source Type: research
A novel KMT2D mutation resulting in Kabuki syndrome: A case report.
Authors: Lu J, Mo G, Ling Y, Ji L
Abstract
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 retard...
Source: Molecular Medicine Reports - September 1, 2016 Category: Molecular Biology Tags: Mol Med Rep Source Type: research
Kabuki syndrome as a cause of non ‐immune fetal hydrops/ascites
We present here two infants who presented with prenatal hydrops/ascites, who were subsequently diagnosed with Kabuki syndrome. Although relatively non‐specific, we suggest that Kabuki syndrome be added to the list of genetic syndromes that are suspected in cases of prenatal hydrops, review the molecular etiology of Kabuki syndrome, and broaden the phenotype of this well‐described disorder. © 2016 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 28, 2016 Category: Genetics & Stem Cells Authors: Ashleigh Long, Elena S. Sinkovskaya, Andrew C. Edmondson, Elaine Zackai, Samantha A. Schrier Vergano Tags: Clinical Report Source Type: research
Growth pattern in Kabuki syndrome with a KMT2D mutation
We present a report on growth data (n = 39) in Kabuki syndrome patients. The data showed that postnatal growth retardation is a clinical feature in all cases. All Kabuki syndrome subjects showed a growth deflection during childhood and a diminution of the pubertal growth spurt. A genotype–phenotype correlation was not observed. Further research is required in order to determine whether a defect in the growth hormone/IGF‐I axis and estrogen receptor plays a role in the growth retardation. © 2016 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 16, 2016 Category: Genetics & Stem Cells Authors: Dina A. Schott, Marinus J. Blok, Willem J. M. Gerver, Koenraad Devriendt, Luc J. I. Zimmermann, Constance T. R. M. Stumpel Tags: Original Article Source Type: research
An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity
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.10588delC, p.(Glu3530Serfs*128) by Mendeliome (Illumina TruSight One®) sequencing, a next generation sequencing panel targeting 4,813 genes linked to human genetic disease. We analyzed the Mendeliome data for additional mutations which might explain the exceptional clinical presentation of our patient but did not find any, lea...
Source: American Journal of Medical Genetics Part A - August 16, 2016 Category: Genetics & Stem Cells Authors: Nina B ögershausen, Umut Altunoglu, Filippo Beleggia, Gökhan Yigit, Hülya Kayserili, Peter Nürnberg, Yun Li, Janine Altmüller, Bernd Wollnik Tags: Clinical Report Source Type: research
Typical facial gestalt in X ‐linked Kabuki syndrome
(Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 1, 2016 Category: Genetics & Stem Cells Authors: Henri Margot, David Genevi ève, Vincent Gatinois, Benoit Arveiler, Sébastien Moutton, Isabelle Touitou, Didier Lacombe Tags: Correspondence Source Type: research
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X ‐Linked Kabuki Syndrome Subtype 2
We present a mutation screening of 347 patients with Kabuki syndrome, which identified 208 mutations in KMT2D, as well as twelve novel KDM6A mutations. We discuss the molecular and clinical findings in this large cohort and compare them to the literature with a focus on the rarer X‐linked Kabuki syndrome type 2. (Source: Human Mutation)
Source: Human Mutation - July 6, 2016 Category: Genetics & Stem Cells Authors: Nina B ögershausen, 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 Fa Tags: Mutation Update Source Type: research
Mutation Update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X‐linked Kabuki syndrome subtype 2
This article is protected by copyright. All rights reserved (Source: Human Mutation)
Source: Human Mutation - June 15, 2016 Category: Genetics & Stem Cells Authors: 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 Fab Tags: Mutation Update Source Type: research
