Published online Sep 28, 2018. doi: 10.3748/wjg.v24.i36.4208
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
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.