PT  - JOURNAL ARTICLE
AU  - Mohammed Alzaid
AU  - Abdullah Alshamrani
AU  - Adel S. Al Harbi
AU  - Ayed Alenzi
AU  - Sarar Mohamed
TI  - Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis
AID  - 10.15537/smj.2019.2.23908
DP  - 2019 Feb 01
TA  - Saudi Medical Journal
PG  - 195--198
VI  - 40
IP  - 2
4099  - http://smj.org.sa/content/40/2/195.short
4100  - http://smj.org.sa/content/40/2/195.full
SO  - Saudi Med J2019 Feb 01; 40
AB  - 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).