Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis.
Saudi Med J
; 40(2): 195-198, 2019 Feb.
Article
en En
| MEDLINE
| ID: mdl-30723866
ABSTRACT
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).
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteinosis Alveolar Pulmonar
/
Metionina-ARNt Ligasa
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Límite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Saudi Med J
Año:
2019
Tipo del documento:
Article