RESEARCH ARTICLE TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome 1,2 3 4,5 6 Holly CorbittID , Shaine A. MorrisID , Claus H. Gravholt , Kristian H. Mortensen , 1 7☯ 1,2☯ Rebecca Tippner-Hedges , Michael Silberbach *, Cheryl L. MaslenID *, GenTAC Registry Investigators¶ 1 Knight Cardiovascular Institute, Oregon Health & Science University, Portland, Oregon, United States of America, 2 Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, a1111111111 Oregon, United States of America, 3 Department of Pediatrics, Division of Pediatric Cardiology, Baylor a1111111111 College of Medicine, Houston, Texas, United States of America, 4 Department of Endocrinology and Internal a1111111111 Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark, 5 Department a1111111111 of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark, 6 Cardiorespiratory Unit, Great a1111111111 Ormond Street Hospital for Children, London, United Kingdom, 7 Department of Pediatrics, Division of Pediatric Cardiology, Oregon Health & Science University, Portland, Oregon, United States of America ☯ These authors contributed equally to this work.¶ Membership of the GenTAC Registry Investigators is listed in the Acknowledgments. *
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[email protected] (CLM) OPEN ACCESS Citation: Corbitt H, Morris SA, Gravholt CH, Mortensen KH, Tippner-Hedges R, Silberbach M, et Abstract al. (2018) TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner Turner syndrome is caused by complete or partial loss of the second sex chromosome, syndrome. PLoS Genet 14(10): e1007692. https:// occurring in ~1 in 2,000 female births. There is a greatly increased incidence of aortopathy doi.org/10.1371/journal.pgen.1007692 of unknown etiology, including bicuspid aortic valve (BAV), thoracic aortic aneurysms, aortic Editor: Bernice E Morrow, Albert Einstein College of dissection and rupture.