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Does the Association Between TMEM98 and Nanophthalmos Require Further Confirmation?

Does the Association Between TMEM98 and Nanophthalmos Require Further Confirmation? Letters Author Affiliations: Department of Ophthalmology, Feinberg School of Based on exome sequencing of approximately 1200 Medicine, Northwestern University, Chicago, Illinois. samples from Chinese individuals with various forms of ge- Corresponding Author: Andrea D. Birnbaum, MD, PhD, Department of netic eye diseases in our laboratory (in a study approved by the Ophthalmology, Feinberg School of Medicine, Northwestern University, 645 N institutional review board of the Zhongshan Ophthalmic Cen- Michigan Ave, Chicago, IL 60611 (andrea.birnbaum@gmail.com). ter, Guangzhou, China), 4 novel heterozygous variations in Published Online: November 20, 2014. TMEM98 were detected and then confirmed using Sanger se- doi:10.1001/jamaophthalmol.2014.4659. quencing, including c.2T>C (p.M1?), c.56C>T (p.S19L), c.149T>C Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were (p.I50T), and c.398A>C (p.K133T) (Figure and Table 1). The first reported. 3 variants were identified in patients with high myopia, and Additional Contributions: Alfred Rademaker, PhD, Department of Preventive the last was found in a patient with cone-rod dystrophy. None Medicine, Feinberg School of Medicine, Northwestern University, Chicago, of these patients had signs of nanophthalmos. None of these Illinois, contributed to this letter; he received no compensation. 4 variations was detected in http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Ophthalmology American Medical Association

Does the Association Between TMEM98 and Nanophthalmos Require Further Confirmation?

Sun, Wenmin; Zhang, Qingjiong
JAMA Ophthalmology , Volume 133 (3) – Mar 1, 2015
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References (3)

Publisher
American Medical Association
Copyright
Copyright 2015 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
2168-6165
eISSN
2168-6173
DOI
10.1001/jamaophthalmol.2014.4915
pmid
25429522
Publisher site
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Abstract

Letters Author Affiliations: Department of Ophthalmology, Feinberg School of Based on exome sequencing of approximately 1200 Medicine, Northwestern University, Chicago, Illinois. samples from Chinese individuals with various forms of ge- Corresponding Author: Andrea D. Birnbaum, MD, PhD, Department of netic eye diseases in our laboratory (in a study approved by the Ophthalmology, Feinberg School of Medicine, Northwestern University, 645 N institutional review board of the Zhongshan Ophthalmic Cen- Michigan Ave, Chicago, IL 60611 (andrea.birnbaum@gmail.com). ter, Guangzhou, China), 4 novel heterozygous variations in Published Online: November 20, 2014. TMEM98 were detected and then confirmed using Sanger se- doi:10.1001/jamaophthalmol.2014.4659. quencing, including c.2T>C (p.M1?), c.56C>T (p.S19L), c.149T>C Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were (p.I50T), and c.398A>C (p.K133T) (Figure and Table 1). The first reported. 3 variants were identified in patients with high myopia, and Additional Contributions: Alfred Rademaker, PhD, Department of Preventive the last was found in a patient with cone-rod dystrophy. None Medicine, Feinberg School of Medicine, Northwestern University, Chicago, of these patients had signs of nanophthalmos. None of these Illinois, contributed to this letter; he received no compensation. 4 variations was detected in

Journal

JAMA Ophthalmology – American Medical Association

Published: Mar 1, 2015

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