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Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis. 2019

Mohammed Alzaid, and Abdullah Alshamrani, and Adel S Al Harbi, and Ayed Alenzi, and Sarar Mohamed
Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia. E-mail. mazaid123@gmail.com.

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).

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D008718 Methionine-tRNA Ligase An enzyme that activates methionine with its specific transfer RNA. EC 6.1.1.10. Methionyl T RNA Synthetase,Met-tRNA Ligase,Methionyl-tRNA Synthetase,Ligase, Met-tRNA,Ligase, Methionine-tRNA,Met tRNA Ligase,Methionine tRNA Ligase,Methionyl tRNA Synthetase,Synthetase, Methionyl-tRNA
D011649 Pulmonary Alveolar Proteinosis A PULMONARY ALVEOLI-filling disease, characterized by dense phospholipoproteinaceous deposits in the alveoli, cough, and DYSPNEA. This disease is often related to, congenital or acquired, impaired processing of PULMONARY SURFACTANTS by alveolar macrophages, a process dependent on GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR. Alveolar Proteinoses, Pulmonary,Alveolar Proteinosis, Pulmonary,Proteinoses, Pulmonary Alveolar,Proteinosis, Pulmonary Alveolar,Pulmonary Alveolar Proteinoses
D006720 Homozygote An individual in which both alleles at a given locus are identical. Homozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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