{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T21:00:43Z","timestamp":1782421243073,"version":"3.54.5"},"reference-count":20,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2022,4,21]],"date-time":"2022-04-21T00:00:00Z","timestamp":1650499200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Polish government grant for science research projects (National Science Centre, Poland)","award":["2017\/27\/B\/NZ5\/02223 (OPUS.E160.18.006)"],"award-info":[{"award-number":["2017\/27\/B\/NZ5\/02223 (OPUS.E160.18.006)"]}]},{"name":"Foundation for Polish Science (FNP)","award":["2017\/27\/B\/NZ5\/02223 (OPUS.E160.18.006)"],"award-info":[{"award-number":["2017\/27\/B\/NZ5\/02223 (OPUS.E160.18.006)"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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\u2013Turner 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 applying WES, we identified a novel hemizygous synonymous variant in the LAS1L gene inherited from an unaffected mother (c.846G &gt; C, p.Thr282=). We suggest that the identified variant impairs the RNA splicing process. Furthermore, we proved the absence of any coding regions by qPCR and sequencing cDNA using amplicon deep sequencing and Sanger sequencing methods. According to the SMARD phenotype, severe breathing problems causing respiratory insufficiency, hypotonia, and feeding difficulties were observed in our patient from the first days of life. Remarkably, our case is the second described patient with a SMARD-like phenotype due to a mutation in the LAS1L gene and the first with a variant impacting splicing.<\/jats:p>","DOI":"10.3390\/genes13050725","type":"journal-article","created":{"date-parts":[[2022,4,22]],"date-time":"2022-04-22T05:07:22Z","timestamp":1650604042000},"page":"725","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene"],"prefix":"10.3390","volume":"13","author":[{"given":"Agnieszka","family":"Stembalska","sequence":"first","affiliation":[{"name":"Department of Genetics, Medical University, 50-368 Wroclaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6969-0535","authenticated-orcid":false,"given":"Ma\u0142gorzata","family":"Rydzanicz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wojciech","family":"Walas","sequence":"additional","affiliation":[{"name":"Paediatric and Neonatal Intensive Care Unit, University Hospital in Opole, 45-401 Opole, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1037-7974","authenticated-orcid":false,"given":"Piotr","family":"Gasperowicz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Pollak","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor Murcia","family":"Pienkowski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland"},{"name":"MMG, Marseille Medical Genetics U1251, Aix Marseille University, 13385 Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3461-193X","authenticated-orcid":false,"given":"Mateusz","family":"Biela","sequence":"additional","affiliation":[{"name":"Department of Family and Paediatric Nursing, Medical University, 50-996 Wroclaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5738-8526","authenticated-orcid":false,"given":"Magdalena","family":"Klaniewska","sequence":"additional","affiliation":[{"name":"Department of Family and Paediatric Nursing, Medical University, 50-996 Wroclaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zuzanna","family":"Gamrot","sequence":"additional","affiliation":[{"name":"Care and Therapy Unit for Mechanically Ventilated Children and Young People, 41-506 Chorzow, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Gronska","sequence":"additional","affiliation":[{"name":"Care and Therapy Unit for Mechanically Ventilated Children and Young People, 41-506 Chorzow, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6286-5526","authenticated-orcid":false,"given":"Rafal","family":"Ploski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Smigiel","sequence":"additional","affiliation":[{"name":"Department of Family and Paediatric Nursing, Medical University, 50-996 Wroclaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,4,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1038\/mp.2014.193","article-title":"X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes","volume":"21","author":"Hu","year":"2016","journal-title":"Mol. 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