Article
Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature.
European journal of medical genetics - 1 Nov 2021
La Fay Charlotte, Hoebeke Celia, Juzaud Marine, Spraul Anne, Heux Pauline, Dubus Jean-Christophe, Hadchouel Alice, Fabre Alexandre
Abstract excerpt
INTRODUCTION: Aminoacyl transfer RNA (tRNA) synthetases are associated with diseases when mutations occur in their encoding genes. Pulmonary alveolar proteinosis can be caused by mutation in the methionyl-tRNA synthetase (MARS) gene while mutations in the leucine-tRNA synthetase (LARS) gene lead to infantile liver failure syndrome type 1. We report the case of a patient with LARS1 pathogenics variants and two...
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