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, a...

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Autores principales: Alzaid, Mohammed, Alshamrani, Abdullah, Harbi, Adel S. Al, Alenzi, Ayed, Mohamed, Sarar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Saudi Medical Journal 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402458/
https://www.ncbi.nlm.nih.gov/pubmed/30723866
http://dx.doi.org/10.15537/smj.2019.2.23908
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author Alzaid, Mohammed
Alshamrani, Abdullah
Harbi, Adel S. Al
Alenzi, Ayed
Mohamed, Sarar
author_facet Alzaid, Mohammed
Alshamrani, Abdullah
Harbi, Adel S. Al
Alenzi, Ayed
Mohamed, Sarar
author_sort Alzaid, Mohammed
collection PubMed
description 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).
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spelling pubmed-64024582019-03-16 Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis Alzaid, Mohammed Alshamrani, Abdullah Harbi, Adel S. Al Alenzi, Ayed Mohamed, Sarar Saudi Med J Case Report 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 Medical Journal 2019-02 /pmc/articles/PMC6402458/ /pubmed/30723866 http://dx.doi.org/10.15537/smj.2019.2.23908 Text en Copyright: © Saudi Medical Journal http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Alzaid, Mohammed
Alshamrani, Abdullah
Harbi, Adel S. Al
Alenzi, Ayed
Mohamed, Sarar
Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis
title Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis
title_full Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis
title_fullStr Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis
title_full_unstemmed Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis
title_short Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis
title_sort methionyl-trna synthetase novel mutation causes pulmonary alveolar proteinosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402458/
https://www.ncbi.nlm.nih.gov/pubmed/30723866
http://dx.doi.org/10.15537/smj.2019.2.23908
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AT harbiadelsal methionyltrnasynthetasenovelmutationcausespulmonaryalveolarproteinosis
AT alenziayed methionyltrnasynthetasenovelmutationcausespulmonaryalveolarproteinosis
AT mohamedsarar methionyltrnasynthetasenovelmutationcausespulmonaryalveolarproteinosis

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