| ISSN |
1007-9327 (print) and 2219-2840 (online) |
| Open Access |
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Gastroenterology & Hepatology |
| Manuscript Type |
Case Report |
| Article Title |
Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature
|
| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Kuerbanjiang Abuduxikuer, Jia-Yan Feng, Yi Lu, Xin-Bao Xie, Lian Chen and Jian-She Wang |
| ORCID |
|
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| National Natural Science Foundation of China |
81570468 |
|
| Corresponding Author |
Jian-She Wang, MD, PhD, Professor, Department of Hepatology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai 201102, China. jshwang@shmu.edu.cn |
| Key Words |
Methionyl-tRNA synthetase; Infant; Kidney stone; Hip dysplasia; Leukocytosis; Interstitial lung and liver disease; Methionyl-tRNA synthetase gene |
| Core Tip |
Previously reported cases of interstitial lung and liver disease (ILLD) were associated with biallelic missense mutations in the methionyl-tRNA synthetase (MARS) gene. Here, we report a Chinese infant with typical ILLD (failure to thrive, developmental delay, interstitial lung disease, cholestasis, hepatomegaly, steatosis, anemia, and thrombocytosis) with novel phenotypes, such as kidney stones, acetabular dysplasia, prolonged fever, and extreme leukocytosis. Whole exome sequencing revealed a novel truncating variant (c.2158C>T/p.Gln720Stop), and a novel tri-nucleotide insertion (c.893_894insTCG) in the MARS gene. Despite the resolution of cholestasis, this patient died of respiratory failure at the age of 11 mo. |
| Publish Date |
2018-09-25 03:44 |
| Citation |
Abuduxikuer K, Feng JY, Lu Y, Xie XB, Chen L, Wang JS. Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature. World J Gastroenterol 2018; 24(36): 4208-4216 |
| URL |
http://www.wjgnet.com/1007-9327/full/v24/i36/4208.htm |
| DOI |
http://dx.doi.org/10.3748/wjg.v24.i36.4208 |
