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 [PMID: 30271085 DOI: 10.3748/wjg.v24.i36.4208]
Corresponding Author of This Article
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
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
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/
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 bythe 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
Abstract
Interstitial lung and liver disease (ILLD) is caused by biallelic mutations in the methionyl-tRNA synthetase (MARS) gene. To date, no genetic changes other than missense variants were reported in the literature. Here, we report a five-month old female infant with typical ILLD (failure to thrive, developmental delay, jaundice, diffuse interstitial lung disease, hepatomegaly with severe steatosis, anemia, and thrombocytosis) showing 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) together with a novel tri-nucleotide insertion (c.893_894insTCG that caused the insertion of an arginine at amino acid position 299) in the MARS 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.
