Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis

Neurology

Volumn 82, Issue 15, 2014, Pages 1322-1330

  Butterfield, Russell J ^a   Stevenson, Tamara J ^a   Xing, Lingyan ^a   Newcomb, Tara M ^a   Nelson, Benjamin ^a   Zeng, Wenqi ^b   Li, Xiang ^b   Lu, Hsiao Mei ^b   Lu, Hong ^b   Gonzalez, Kelly D Farwell ^b   Wei, Jia Perng ^b   Chao, Elizabeth C ^b,c   Prior, Thomas W ^d   Snyder, Pamela J ^b   Bonkowsky, Joshua L ^a   Swoboda, Kathryn J ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b AMBRY GENETICS   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; PERIPHERAL MYELIN PROTEIN 22; RHESUS C ANTIBODY; RHESUS E ANTIBODY; LAS1L PROTEIN, HUMAN; NUCLEAR PROTEIN;

APNEA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE DISORDER; BIOGENESIS; BRADYCARDIA; CASE REPORT; CHROMOSOME 5; CREATINE KINASE BLOOD LEVEL; EXON; FLEXION CONTRACTURE; GENE; GENE FREQUENCY; GENE SEQUENCE; GENE SILENCING; HUMAN; IGHMBP2 GENE; IMMUNOHISTOCHEMISTRY; INFANT; LAS1L GENE; MALE; MOTOR NEURON DISEASE; MPZ GENE; MUSCLE ACTION POTENTIAL; PHENOTYPE; PHOX2B GENE; PRIORITY JOURNAL; RECURRENT DISEASE; RESPIRATORY DISTRESS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RIBOSOME; RIBOSOME SUBUNIT; RNA PROCESSING; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS; SPINAL MUSCULAR ATROPHY; SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS; TRANSLATION INITIATION; ZEBRA FISH; ANIMAL; GENETICS; GENOTYPE; METABOLISM; MUTATION; NEWBORN;

ANIMALS; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MUSCULAR ATROPHY, SPINAL; MUTATION; NUCLEAR PROTEINS; RIBOSOMES; ZEBRAFISH;

EID: 84902096257     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000305     Document Type: Article

References (36)

1. Mellins RB, Hays AP, Gold AP, Berdon WE, Bowdler JD. Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease. Pediatrics 1974; 53: 33-40.
2. Pitt M, Houlden H, Jacobs J, et al. Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1. Brain 2003; 126: 2682-2692. (Pubitemid 37463087)
3. Grohmann K, Schuelke M, Diers A, et al. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 2001; 29: 75-77. (Pubitemid 32801813)
4. Guenther UP, Varon R, Schlicke M, et al. Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. Hum Mutat 2007; 28: 808-815. (Pubitemid 47282442)
5. Messina MF, Messina S, Gaeta M, et al. Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): an atypical phenotype and review of the literature. Eur J Paediatr Neurol 2012; 16: 90-94.
6. Guenther UP, Handoko L, Laggerbauer B, et al. IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1). Hum Mol Genet 2009; 18: 1288-1300.
7. de Planell-Saguer M, Schroeder DG, Rodicio MC, Cox GA, Mourelatos Z. Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery. Hum Mol Genet 2009; 18: 2115-2126.
8. Grohmann K, Rossoll W, Kobsar I, et al. Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1). Hum Mol Genet 2004; 13: 2031-2042. (Pubitemid 39377827)
9. Gitiaux C, Bergounioux J, Magen M, et al. Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy. J Child Neurol 2013; 28: 784-787.
10. Castle CD, Cassimere EK, Denicourt C. LAS1L interacts with the mammalian Rix1 complex to regulate ribosome biogenesis. Mol Biol Cell 2011; 23: 716-728.
11. Gnirke A, Melnikov A, Maguire J, et al. Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol 2009; 27: 182-189.
12. Stenson PD, Mort M, Ball EV, et al. The human gene mutation database: 2008 update. Genome Med 2009; 1: 13.
13. Sherry ST, Ward MH, Kholodov M, et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001; 29: 308-311. (Pubitemid 32054478)
14. Abecasis GR, Altshuler D, Auton A, et al. A map of human genome variation from population-scale sequencing. Nature 2010; 467: 1061-1073.
15. International HapMap Consortium. The International HapMap Project. Nature 2003; 426: 789-796.
16. Henras AK, Soudet J, Gerus M, et al. The post-transcriptional steps of eukaryotic ribosome biogenesis. Cell Mol Life Sci 2008; 65: 2334-2359.
17. Nousbeck J, Spiegel R, Ishida-Yamamoto A, et al. Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. Am J Hum Genet 2008; 82: 1114-1121.
18. Rudnik-Schoneborn S, Heller R, Berg C, et al. Congenital heart disease is a feature of severe infantile spinal muscular atrophy. J Med Genet 2008; 45: 635-638.
19. Sidi S, Sanda T, Kennedy RD, et al. Chk1 suppresses a caspase-2 apoptotic response to DNA damage that bypasses p53, Bcl-2, and caspase-3. Cell 2008; 133: 864-877. (Pubitemid 351715394)
20. Araujo A, Araujo M, Swoboda KJ. Vascular perfusion abnormalities in infants with spinal muscular atrophy. J Pediatr 2009; 155: 292-294.
21. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248-249.
22. Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001; 11: 863-874. (Pubitemid 32447869)
23. Ng PC, Henikoff S. Accounting for human polymorphisms predicted to affect protein function. Genome Res 2002; 12: 436-446. (Pubitemid 34233019)
24. Robinson JT, Thorvaldsdottir H, Winckler W, et al. Integrative genomics viewer. Nat Biotechnol 2011; 29: 24-26.
25. Tsai MF, Lin YJ, Cheng YC, et al. PrimerZ: streamlined primer design for promoters, exons and human SNPs. Nucleic Acids Res 2007; 35:W63-W65.
26. Kimmel CB, Ballard WW, Kimmel SR, Ullmann B, Schilling TF. Stages of embryonic development of the zebrafish. Dev Dyn 1995; 203: 253-310.
27. Bonkowsky JL, Wang X, Fujimoto E, Lee JE, Chien CB, Dorsky RI. Domain-specific regulation of foxP2 CNS expression by lef1. BMC Dev Biol 2008; 8: 103.
28. Bonkowsky JL, Chien CB. Molecular cloning and developmental expression of foxP2 in zebrafish. Dev Dyn 2005; 234: 740-746. (Pubitemid 41532995)
29. Suli A, Mortimer N, Shepherd I, Chien CB. Netrin/DCC signaling controls contralateral dendrites of octavolateralis efferent neurons. J Neurosci 2006; 26: 13328-13337. (Pubitemid 46011643)
30. Castle CD, Cassimere EK, Lee J, Denicourt C. Las1L is a nucleolar protein required for cell proliferation and ribosome biogenesis. Mol Cell Biol 2010; 30: 4404-4414.
31. Doseff AI, Arndt KT. LAS1 is an essential nuclear protein involved in cell morphogenesis and cell surface growth. Genetics 1995; 141: 857-871.
32. Schillewaert S, Wacheul L, Lhomme F, Lafontaine DL. The evolutionarily conserved protein Las1 is required for pre-rRNA processing at both ends of ITS2. Mol Cell Biol 2011; 32: 430-444.
33. Fanis P, Gillemans N, Aghajanirefah A, et al. Five friends of methylated chromatin target of protein-argininemethyltransferase[prmt]-1 (chtop), a complex linking arginine methylation to desumoylation. Mol Cell Proteomics 2012; 11: 1263-1273.
34. Finkbeiner E, Haindl M, Muller S. The SUMO system controls nucleolar partitioning of a novel mammalian ribosome biogenesis complex. EMBO J 2011; 30: 1067-1078.
35. Hachiya Y, Arai H, Hayashi M, et al. Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival. Brain Dev 2005; 27: 574-578. (Pubitemid 41681756)
36. Hoang T, Peng WT, Vanrobays E, et al. Esf2p, a U3-associated factor required for small-subunit processome assembly and compaction. Mol Cell Biol 2005; 25: 5523-5534. (Pubitemid 40853587)