Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature  

作　　者：Kuerbanjiang Abuduxikuer Jia-Yan Feng Yi Lu Xin-Bao Xie Lian Chen Jian-She Wang 

机构地区：[1]Department of Hepatology,Children’s Hospital of Fudan University [2]Department of Pathology,Children’s Hospital of Fudan University [3]Department of Pediatrics,Jinshan Hospital of Fudan University

出　　处：《World Journal of Gastroenterology》2018年第36期4208-4216,共9页世界胃肠病学杂志（英文版）

基　　金：Supported by the National Natural Science Foundation of China,No.81570468

摘　　要：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.2158 C>T/p.Gln720 Stop) together with a novel tri-nucleotide insertion(c.893_894 insTCG that caused the insertion of an arginine at amino acid position 299) in the MARS gene.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.2158 C>T/p.Gln720 Stop) together with a novel tri-nucleotide insertion(c.893_894 insTCG that caused the insertion of an arginine at amino acid position 299) in the MARS gene.

关 键 词：Methionyl-tRNA SYNTHETASE Infant Kidney stone Hip DYSPLASIA LEUKOCYTOSIS INTERSTITIAL lung and liver disease Methionyl-tRNA SYNTHETASE gene 

分 类 号：R57[医药卫生—消化系统]