Abstract:
OBJECTIVE: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 IGHMBP2 gene. METHODS:Exome sequencing was used to identify a de novo mutation in the LAS1L gene in the proband. Pathogenicity of the mutation was validated using a zebrafish model by morpholino-mediated knockdown of las1l. RESULTS:We identified a de novo mutation in the X-linked LAS1L gene in the proband (p.S477N). The mutation is in a highly conserved region of the LAS1L gene predicted to be deleterious by bioinformatic analysis. Morpholino-based knockdown of las1l, 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. CONCLUSION:We report a patient with a SMARD phenotype due to a mutation in LAS1L, a gene important in coordinating processing of the 45S pre-rRNA and maturation of the large 60S ribosomal subunit. Similarly, the IGHMB2 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 IGHMBP2 and LAS1L.
journal_name
Neurologyjournal_title
Neurologyauthors
Butterfield RJ,Stevenson TJ,Xing L,Newcomb TM,Nelson B,Zeng W,Li X,Lu HM,Lu H,Farwell Gonzalez KD,Wei JP,Chao EC,Prior TW,Snyder PJ,Bonkowsky JL,Swoboda KJdoi
10.1212/WNL.0000000000000305subject
Has Abstractpub_date
2014-04-15 00:00:00pages
1322-30issue
15eissn
0028-3878issn
1526-632Xpii
WNL.0000000000000305journal_volume
82pub_type
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