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• W2103138096 abstract "<h3>Objective:</h3> We describe a novel congenital motor neuron disease with early demise due to respiratory insufficiency with clinical overlap with spinal muscular atrophy with respiratory distress (SMARD) type 1 but lacking a mutation in the <i>IGHMBP2</i> gene. <h3>Methods:</h3> Exome sequencing was used to identify a de novo mutation in the <i>LAS1L</i> gene in the proband. Pathogenicity of the mutation was validated using a zebrafish model by morpholino-mediated knockdown of <i>las1l</i>. <h3>Results:</h3> We identified a de novo mutation in the X-linked <i>LAS1L</i> gene in the proband (p.S477N). The mutation is in a highly conserved region of the <i>LAS1L</i> gene predicted to be deleterious by bioinformatic analysis. Morpholino-based knockdown of <i>las1l</i>, the orthologous gene in zebrafish, results in early lethality and disruption of muscle and peripheral nerve architecture. Coinjection of wild-type but not mutant human RNA results in partial rescue of the phenotype. <h3>Conclusion:</h3> We report a patient with a SMARD phenotype due to a mutation in <i>LAS1L</i>, a gene important in coordinating processing of the 45S pre-rRNA and maturation of the large 60S ribosomal subunit. Similarly, the <i>IGHMB2</i> gene associated with SMARD type 1 has been suggested to have an important role in ribosomal biogenesis from its role in processing the 45S pre-rRNA. We propose that disruption of ribosomal maturation may be a common pathogenic mechanism linking SMARD phenotypes caused by both <i>IGHMBP2</i> and <i>LAS1L</i>." @default.
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• W2103138096 date "2014-03-19" @default.
• W2103138096 modified "2023-09-26" @default.
• W2103138096 title "Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis" @default.
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• W2103138096 doi "https://doi.org/10.1212/wnl.0000000000000305" @default.
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