Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis

Mohammed Alzaid, Abdullah Alshamrani, Adel S. Al Harbi, Ayed Alenzi, Sarar Mohamed


The  methionyl-tRNA  synthetase  (MARS)  mutation is  a  very  rare  cause  of  congenital  pulmonary  alveolar proteinosis.We report a 6-month-old boy born with symmetrical intrauterine growth retardation presented with unexplained persistent tachypnea and hypoxemia associated with severe failure to thrive, anemia, hypoalbuminemia and hepatomegaly. Detailed pulmonary investigations including computed tomography chest scan, bronchoscopy and bronchoalveolar lavage revealed pulmonary alveolar proteinosis. Whole exome sequencing identified a homozygous novel variant in the MARS gene, c.854T>C p.(Ile285Thr).


Saudi Med J 2019; Vol. 40 (2): 195-198
doi: 10.15537/smj.2019.2.23908

How to cite this article:
Alzaid M, Alshamrani A, Al Harbi AS, Alenzi A, Mohamed S. Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis. Saudi Med J. 2019 Feb;40(2):195-198. doi: 10.15537/smj.2019.2.23908.


Methionyl-tRNA synthetase; pulmonary alveolar proteinosis

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