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Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene.

Genes - 21 Apr 2022

Stembalska Agnieszka, Rydzanicz Małgorzata, Walas Wojciech, Gasperowicz Piotr, Pollak Agnieszka, Pienkowski Victor Murcia, Biela Mateusz, Klaniewska Magdalena, Gamrot Zuzanna, Gronska Ewa, Ploski Rafal, Smigiel Robert

Abstract excerpt

LAS1L encodes a nucleolar ribosomal biogenesis protein and is also a component of the Five Friends of Methylated CHTOP (5FMC) complex. Mutations in the LAS1L gene can be associated with Wilson−Turner syndrome (WTS) and, much more rarely, severe infantile hypotonia with respiratory failure. Here, we present an eighteen-month old boy with a phenotype of spinal muscular atrophy with respiratory distress (SMARD). By...

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Identifiers

PMID: 35627110
DOI: 10.3390/genes13050725
PMCID: PMC9142081

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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