Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis
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
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.
Borie R, Danel C, Debray MP, Taille C, Dombret MC, Aubier M, et al. Pulmonary alveolar proteinosis. Eur Respir Rev 2011; 20: 98-107.
Kurland G, Deterding RR, Hagood JS, Young LR, Brody AS, Castile RG, et al. An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy. Am J Respir Crit Care Med 2013; 188: 376-394.
Antonellis A, Green ED. The role of aminoacyl-tRNA synthetases in genetic diseases. Annu Rev Genomics Hum Genet 2008; 9: 87-107.
van Meel E, Wegner DJ, Cliften P, Willing MC, White FV, Kornfeld S, et al. Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype. BMC Med Genet 2013; 14: 106.
Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med 2013; 369: 1502-1511.
Enaud L, Hadchouel A, Coulomb A, Berteloot L, Lacaille F, Boccon-Gibod L, et al. Pulmonary alveolar proteinosis in children on La Réunion Island: a new inherited disorder? Orphanet J Rare Dis 2014; 9: 85.
Hadchouel A, Wieland T, Griese M, Baruffini E, Lorenz-Depiereux B, Enaud L, et al. Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island. Am J Hum Genet 2015; 96: 826-831.
Sun Y, Hu G, Luo J, Fang D, Yu Y, Wang X, et al. Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia. J Hum Genet 2017; 62: 647-651.
Al-Haidary AS, Alotaibi W, Alhaider SA, Al-Saleh S. A newly identified novel variant in the CSF2RA gene in a child with pulmonary alveolar proteinosis: a case report. J Med Case Rep 2017; 11: 122.
Huaringa AJ, Francis WH. Pulmonary alveolar proteinosis: a case report and world literature review. Respirol Case Rep 2016; 4: e00201.
Comisso M, Hadchouel A, de Blic J, Mirande M. Mutations in MARS identified in a specific type of pulmonary alveolar proteinosis alter methionyl-tRNA synthetase activity. FEBS J 2018; 285: 2654-2661.
- There are currently no refbacks.
Saudi Medical Journal is copyright under the Berne Convention and the International Copyright Convention. Saudi Medical Journal is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work. Electronic ISSN 1658-3175. Print ISSN 0379-5284.