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

Authors:
Kuerbanjiang Abuduxikuer
Kuerbanjiang Abuduxikuer
Children's Hospital of Fudan University
China
Jia-yan Feng
Jia-yan Feng
Tongji University School of Medicine
China
Yi Lu
Yi Lu
and Throat Hospital
United States
Xin-bao Xie
Xin-bao Xie
Children's Hospital of Fudan University
China
Lian Chen
Lian Chen
Fujian Institute of Research on the Structure of Matter
China
Jian-she Wang
Jian-she Wang
Fudan University
China

World J Gastroenterol 2018 Sep;24(36):4208-4216

Department of Hepatology, Children's Hospital of Fudan University, Shanghai 201102, China.

Interstitial lung and liver disease (ILLD) is caused by biallelic mutations in the methionyl-tRNA synthetase () 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 gene.

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Source
http://dx.doi.org/10.3748/wjg.v24.i36.4208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158480PMC
September 2018
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