A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

Author:

Gennarino Vincenzo A.,Palmer Elizabeth E.,McDonell Laura M.,Wang Li,Adamski Carolyn J.,Koire Amanda,See Lauren,Chen Chun-An,Schaaf Christian P.,Rosenfeld Jill A.,Panzer Jessica A.,Moog Ute,Hao Shuang,Bye Ann,Kirk Edwin P.,Stankiewicz Pawel,Breman Amy M.,McBride Arran,Kandula Tejaswi,Dubbs Holly A.,Macintosh Rebecca,Cardamone Michael,Zhu Ying,Ying Kevin,Dias Kerith-Rae,Cho Megan T.,Henderson Lindsay B.,Baskin Berivan,Morris Paula,Tao Jiang,Cowley Mark J.,Dinger Marcel E.,Roscioli Tony,Caluseriu Oana,Suchowersky Oksana,Sachdev Rani K.,Lichtarge Olivier,Tang Jianrong,Boycott Kym M.,Holder J. Lloyd,Zoghbi Huda Y.

Funder

Baylor College of Medicine

Howard Hughes Medical Institute

National Institute of Neurological Disorders and Stroke

National Institute of General Medical Sciences

Robbins Foundation

Joan and Stanford Alexander Family

CPRIT

National Ataxia Foundation/Young Investigator Research Grant 2017

Neuroconnectivity Core at the NRI and Baylor College of Medicine

Care4Rare Canada Consortium

Genome Canada

Canadian Institute of Health Research

Ontario Genomics Institute

Ontario Research Fund

Genome Quebec

Children’s Hospital of Eastern Ontario Foundation

NHMRC

Toupin Foundation at the University of Alberta

Publisher

Elsevier BV

Subject

General Biochemistry, Genetics and Molecular Biology

Reference81 articles.

1. An integrated map of genetic variation from 1,092 human genomes;Abecasis;Nature,2012

2. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

3. Integrating common and rare genetic variation in diverse human populations;Altshuler;Nature,2010

4. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders;Amberger;Nucleic Acids Res.,2015

5. XPR1 mutations are a rare cause of primary familial brain calcification;Anheim;J. Neurol.,2016

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