Finger creases lend a hand in Kabuki syndrome.
We describe a novel sign, namely the attenuation and/or congenital absence of the IPD crease of the third and fourth fingers associated with limitation of flexion of the corresponding joints, which seems to be specific of KS and could help the clinician to diagnose KS.
PMID: 23933090 [PubMed - as supplied by publisher] (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - August 6, 2013 Category: Genetics & Stem Cells Authors: Michot C, Corsini C, Sanlaville D, Baumann C, Toutain A, Philip N, Busa T, Holder M, Faivre L, Odent S, Delrue MA, Till M, Jacquemont ML, Cordier MP, Goldenberg A, Sanchez E, Alix E, Poisson S, Kayirangwa H, Lacombe D, Gilbert-Dussardier B, Pelet A, Roume Tags: Eur J Med Genet Source Type: research
MLL2 and KDM6A mutations in patients with Kabuki syndrome
Abstract
Kabuki syndrome is a congenital anomaly syndrome characterized by developmental delay, intellectual disability, specific facial features including long palpebral fissures and ectropion of the lateral third of the lower eyelids, prominent digit pads, and skeletal and visceral abnormalities. Mutations in MLL2 and KDM6A cause Kabuki syndrome. We screened 81 individuals with Kabuki syndrome for mutations in these genes by conventional methods (n = 58) and/or targeted resequencing (n = 45) or whole exome sequencing (n = 5). We identified a mutation in MLL2 or KDM6A in 50 (61.7%) and 5 (6.2%) cases, respecti...
Source: American Journal of Medical Genetics Part A - August 2, 2013 Category: Genetics & Stem Cells Authors: Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, Seiji Mizuno, Tsutomu Ogata, Toshiro Nagai, Tomoki Kosho, Hirofumi Ohashi, Mitsuhiro Kato, Goro Sasaki, Hiroyo Mabe, Yoriko Watanabe, Makoto Yoshino, Toyojiro Matsuishi, Jun‐Ichi Takanashi, Vorasuk Shote Tags: Research Article Source Type: research
Kabuki syndrome: A challenge for the primary care provider
ConclusionKabuki syndrome is a rare phenomenon that occurs in 1 in every 32,000 births. A diagnosis of this syndrome may take several months to years because there are no specific tests, and the physical features may be subtle at birth, becoming more pronounced over a period of time during childhood. The degree of disease severity varies widely.
Implications for practiceUnderstanding this syndrome increases the NP's ability to provide primary care to affected patients and their families. Management of this condition requires the NP take on the role of gatekeeper, so timely coordination of specialty or subspecialty services...
Source: Journal of the American Academy of Nurse Practitioners - June 17, 2013 Category: Nursing Authors: Bonnie Crane, Patricia T. Alpert, Dianne Cyrkiel, Alan Jauregui Tags: CASE STUDY Source Type: research
Congenital heart defects in Kabuki syndrome.
CONCLUSIONS: Congenital heart defects are one of the clinical manifestations of KS with 90.6% of the patients being diagnosed prenatally or at an early age. About 20% of the patients warranted surgical repair of the heart defects. Patients with KS require close follow-up in terms of their etiology, clinical presentations and long-term prognosis.
PMID: 23558868 [PubMed - in process] (Source: Cardiology Journal)
Source: Cardiology Journal - May 24, 2013 Category: Cardiology Authors: Yuan SM Tags: Cardiol J Source Type: research
Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome
Conclusion: Our study emphasizes the need for ultrasound and renal function screening in children diagnosed with KS. (Source: The Journal of Pediatrics)
Source: The Journal of Pediatrics - March 26, 2013 Category: Pediatrics Authors: Jean-Benoît Courcet, Laurence Faivre, Caroline Michot, Antoine Burguet, Stéphanie Perez-Martin, Eudeline Alix, Jeanne Amiel, Clarisse Baumann, Marie-Pierre Cordier, Valérie Cormier-Daire, Marie Ange Delrue, Brigitte Gilbert-Dussardier, Alice Goldenberg Tags: Original Articles Source Type: research
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
n E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis CL, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Reardon SP, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A
Abstract
Recently pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa-Kuroki) syndrome (MIM#147920). To further el...
Source: Clinical Genetics - January 16, 2013 Category: Genetics & Stem Cells Authors: Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Louise Izatt, Flores R, Gal Tags: Clin Genet Source Type: research
