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Title: De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Authors: Christopher T. Gordon
Shifeng Xue
Gökhan Yigit
Hicham Filali
Kelan Chen
Nadine Rosin
Koh Ichiro Yoshiura
Myriam Oufadem
Tamara J. Beck
Ruth McGowan
Alex C. Magee
Janine Altmüller
Camille Dion
Holger Thiele
Alexandra D. Gurzau
Peter Nürnberg
Dieter Meschede
Wolfgang Mühlbauer
Nobuhiko Okamoto
Vinod Varghese
Rachel Irving
Sabine Sigaudy
Denise Williams
S. Faisal Ahmed
Carine Bonnard
Mung Kei Kong
Ilham Ratbi
Nawfal Fejjal
Meriem Fikri
Siham Chafai Elalaoui
Hallvard Reigstad
Christine Bole-Feysot
Patrick Nitschké
Nicola Ragge
Nicolas Lévy
Gökhan Tunçbilek
Audrey S.M. Teo
Michael L. Cunningham
Abdelaziz Sefiani
Hülya Kayserili
James M. Murphy
Chalermpong Chatdokmaiprai
Axel M. Hillmer
Duangrurdee Wattanasirichaigoon
Stanislas Lyonnet
Frédérique Magdinier
Asif Javed
Marnie E. Blewitt
Jeanne Amiel
Bernd Wollnik
Bruno Reversade
Universite Paris Descartes
A-Star, Institute of Medical Biology
A-Star, Institute of Molecular and Cell Biology
Universitätsmedizin Göttingen
Mohammed V University in Rabat
Walter and Eliza Hall Institute of Medical Research
University of Melbourne
Nagasaki University
Queen Elizabeth University Hospital
Belfast Health and Social Care Trust
University of Cologne
Genetique Medicale et Genomique Fonctionnelle
Institut für Humangenetik
Facharzt fur plastische und asthetische Chirurgie
Research Institute, Osaka Medical Center for Maternal and Child Health
University Hospital of Wales
Hopital La Timone
NHS Foundation Trust
University of Glasgow
National Institute of Hygiene
Helse Bergen Haukeland University Hospital
Oxford Brookes University
Hacettepe Üniversitesi
A-Star, Genome Institute of Singapore
University of Washington School of Medicine
Koç Üniversitesi
Mahidol University
Hôpital Necker Enfants Malades
National University of Singapore
VU University Medical Center
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 31-Jan-2017
Citation: Nature Genetics. Vol.49, No.2 (2017), 249-255
Abstract: © 2017 Nature America, Inc. All rights reserved. Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD.
ISSN: 15461718
Appears in Collections:Scopus 2016-2017

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