Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Author:

Burrage Lindsay C.,Reynolds John J.,Baratang Nissan Vida,Phillips Jennifer B.,Wegner Jeremy,McFarquhar Ashley,Higgs Martin R.,Christiansen Audrey E.,Lanza Denise G.,Seavitt John R.,Jain Mahim,Li Xiaohui,Parry David A.,Raman Vandana,Chitayat David,Chinn Ivan K.,Bertuch Alison A.,Karaviti Lefkothea,Schlesinger Alan E.,Earl Dawn,Bamshad Michael,Savarirayan Ravi,Doddapaneni Harsha,Muzny Donna,Jhangiani Shalini N.,Eng Christine M.,Gibbs Richard A.,Bi Weimin,Emrick Lisa,Rosenfeld Jill A.,Postlethwait John,Westerfield Monte,Dickinson Mary E.,Beaudet Arthur L.,Ranza Emmanuelle,Huber Celine,Cormier-Daire Valérie,Shen Wei,Mao Rong,Heaney Jason D.,Orange Jordan S.,Bertola Débora,Yamamoto Guilherme L.,Baratela Wagner A.R.,Butler Merlin G.,Ali Asim,Adeli Mehdi,Cohn Daniel H.,Krakow Deborah,Jackson Andrew P.,Lees Melissa,Offiah Amaka C.,Carlston Colleen M.,Carey John C.,Stewart Grant S.,Bacino Carlos A.,Campeau Philippe M.,Lee Brendan,Adams David R.,Aday Aaron,Alejandro Mercedes E.,Allard Patrick,Ashley Euan A.,Azamian Mahshid S.,Bacino Carlos A.,Baker Eva,Balasubramanyam Ashok,Barseghyan Hayk,Batzli Gabriel F.,Beggs Alan H.,Behnam Babak,Bellen Hugo J.,Bernstein Jonathan A.,Berry Gerard T.,Bican Anna,Bick David P.,Birch Camille L.,Bonner Devon,Boone Braden E.,Bostwick Bret L.,Briere Lauren C.,Brokamp Elly,Brown Donna M.,Brush Matthew,Burke Elizabeth A.,Burrage Lindsay C.,Butte Manish J.,Chen Shan,Clark Gary D.,Coakley Terra R.,Cogan Joy D.,Colley Heather A.,Cooper Cynthia M.,Cope Heidi,Craigen William J.,D’Souza Precilla,Davids Mariska,Davidson Jean M.,Dayal Jyoti G.,Dell’Angelica Esteban C.,Dhar Shweta U.,Dipple Katrina M.,Donnell-Fink Laurel A.,Dorrani Naghmeh,Dorset Daniel C.,Douine Emilie D.,Draper David D.,Dries Annika M.,Duncan Laura,Eckstein David J.,Emrick Lisa T.,Eng Christine M.,Enns Gregory M.,Eskin Ascia,Esteves Cecilia,Estwick Tyra,Fernandez Liliana,Ferreira Carlos,Fieg Elizabeth L.,Fisher Paul G.,Fogel Brent L.,Friedman Noah D.,Gahl William A.,Glanton Emily,Godfrey Rena A.,Goldman Alica M.,Goldstein David B.,Gould Sarah E.,Gourdine Jean-Philippe F.,Groden Catherine A.,Gropman Andrea L.,Haendel Melissa,Hamid Rizwan,Hanchard Neil A.,High Frances,Holm Ingrid A.,Hom Jason,Howerton Ellen M.,Huang Yong,Jamal Fariha,Jiang Yong-hui,Johnston Jean M.,Jones Angela L.,Karaviti Lefkothea,Koeller David M.,Kohane Isaac S.,Kohler Jennefer N.,Krasnewich Donna M.,Korrick Susan,Koziura Mary,Krier Joel B.,Kyle Jennifer E.,Lalani Seema R.,Lau C. Christopher,Lazar Jozef,LeBlanc Kimberly,Lee Brendan H.,Lee Hane,Levy Shawn E.,Lewis Richard A.,Lincoln Sharyn A.,Loo Sandra K.,Loscalzo Joseph,Maas Richard L.,Macnamara Ellen F.,MacRae Calum A.,Maduro Valerie V.,Majcherska Marta M.,Malicdan May Christine V.,Mamounas Laura A.,Manolio Teri A.,Markello Thomas C.,Marom Ronit,Martin Martin G.,Martínez-Agosto Julian A.,Marwaha Shruti,May Thomas,McConkie-Rosell Allyn,McCormack Colleen E.,McCray Alexa T.,Merker Jason D.,Metz Thomas O.,Might Matthew,Moretti Paolo M.,Morimoto Marie,Mulvihill John J.,Murdock David R.,Murphy Jennifer L.,Muzny Donna M.,Nehrebecky Michele E.,Nelson Stan F.,Newberry J. Scott,Newman John H.,Nicholas Sarah K.,Novacic Donna,Orange Jordan S.,Orengo James P.,Pallais J. Carl,Palmer Christina G.S.,Papp Jeanette C.,Parker Neil H.,Pena Loren D.M.,Phillips John A.,Posey Jennifer E.,Postlethwait John H.,Potocki Lorraine,Pusey Barbara N.,Renteria Genecee,Reuter Chloe M.,Rives Lynette,Robertson Amy K.,Rodan Lance H.,Rosenfeld Jill A.,Sampson Jacinda B.,Samson Susan L.,Schoch Kelly,Scott Daryl A.,Shakachite Lisa,Sharma Prashant,Shashi Vandana,Signer Rebecca,Silverman Edwin K.,Sinsheimer Janet S.,Smith Kevin S.,Spillmann Rebecca C.,Stoler Joan M.,Stong Nicholas,Sullivan Jennifer A.,Sweetser David A.,Tan Queenie K.-G.,Tifft Cynthia J.,Toro Camilo,Tran Alyssa A.,Urv Tiina K.,Vilain Eric,Vogel Tiphanie P.,Waggott Daryl M.,Wahl Colleen E.,Walley Nicole M.,Walsh Chris A.,Walker Melissa,Wan Jijun,Wangler Michael F.,Ward Patricia A.,Waters Katrina M.,Webb-Robertson Bobbie-Jo M.,Westerfield Monte,Wheeler Matthew T.,Wise Anastasia L.,Wolfe Lynne A.,Worthey Elizabeth A.,Yamamoto Shinya,Yang John,Yang Yaping,Yoon Amanda J.,Yu Guoyun,Zastrow Diane B.,Zhao Chunli,Zheng Allison

Funder

National Institutes of Health

University of Utah Pathology Departmental Funds

Associated Regional and University Pathologists (ARUP) Laboratories

Burroughs Wellcome Fund

National Institute of General Medical Sciences

Canadian Institutes of Health Research

Fonds de Recherche du Québec - Santé

Quebec Network for Oral and Bone Health Research

Cancer Research UK

University of Birmingham

Medical Research Council

MRC UK

European Research Council

European Union’s Horizon 2020 research and innovation program

Telethon Italy

São Paulo Research Foundation

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference56 articles.

1. The SPONASTRIME dysplasia: Familial short-limb dwarfism with saddle nose, spinal alterations and metaphyseal striation. Report of 4 siblings;Fanconi;Helv. Paediatr. Acta,1983

2. Sponastrime dysplasia: Five new cases and review of nine previously published cases;Langer;Am. J. Med. Genet.,1996

3. SPONASTRIME dysplasia: Report on a female patient with severe skeletal changes;Masuno;Am. J. Med. Genet.,1996

4. SPONASTRIME dysplasia: Report of an 11-year-old boy and review of the literature;Cooper;Am. J. Med. Genet.,2000

5. Sponastrime dysplasia with abnormal urinary glycosaminoglycans and growth hormone unresponsiveness;Umpaichitra;Clin. Dysmorphol.,2002

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