Case Report
Copyright ©The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Sep 28, 2018; 24(36): 4208-4216
Published online Sep 28, 2018. doi: 10.3748/wjg.v24.i36.4208
Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature
Kuerbanjiang Abuduxikuer, Jia-Yan Feng, Yi Lu, Xin-Bao Xie, Lian Chen, Jian-She Wang
Kuerbanjiang Abuduxikuer, Yi Lu, Xin-Bao Xie, Jian-She Wang, Department of Hepatology, Children’s Hospital of Fudan University, Shanghai 201102, China
Jia-Yan Feng, Lian Chen, Department of Pathology, Children’s Hospital of Fudan University, Shanghai 201102, China
Jian-She Wang, Department of Pediatrics, Jinshan Hospital of Fudan University, Shanghai 201508, China
Author contributions: Wang JS designed the report and approved the final submission; Abuduxikuer K collected data, analyzed relevant information, and wrote the manuscript; Wang JS, Lu Y, Xie XB, and Abuduxikuer K clinically managed the patient; Feng JY, Chen L analyzed liver biopsy samples.
Supported by the National Natural Science Foundation of China, No. 81570468.
Informed consent statement: Informed consent was obtained from the parents.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
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/
Correspondence to: 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
Telephone: +86-21-64931171 Fax: +86-21-64931171
Received: June 21, 2018
Peer-review started: June 22, 2018
First decision: July 31, 2018
Revised: August 2, 2018
Accepted: August 24, 2018
Article in press: August 24, 2018
Published online: September 28, 2018
Processing time: 95 Days and 20.7 Hours
Core Tip

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.