Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1

Oncotarget

Volumn 7, Issue 51, 2016, Pages 83843-83849

  Dai, Yi ^a   Liang, Shengran ^b   Huang, Yan ^a   Chen, Lin ^a   Banerjee, Santasree ^b  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^b BGI SHENZHEN   (China)

Author keywords

Compound heterozygotes; Pathology Section; Respiratory insufficiency; Selenoprotein N; SEPN1; SEPN1 RM

Indexed keywords

ACUTE RESPIRATORY FAILURE; ADOLESCENT; ARTICLE; CASE REPORT; CERVICAL SPINE; EXOME; FIBER; GENE; GENE MUTATION; HETEROZYGOTE; HUMAN; IMAGE ANALYSIS; LOCOMOTION; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE STRENGTH; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; PHENOTYPE; PHYSICAL EXAMINATION; RESPIRATORY FAILURE; RIGID SPINE MUSCULAR DYSTROPHY 1; SANGER SEQUENCING; SCOLIOSIS; SEPN1 GENE; WEAKNESS; BIOPSY; DIAGNOSTIC IMAGING; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; HEREDITY; HIGH THROUGHPUT SEQUENCING; MALLORY BODY; PATHOLOGY; PEDIGREE; PREDICTIVE VALUE; PROCEDURES; STOP CODON;

MUSCLE PROTEIN; SELENOPROTEIN; SEPN1 PROTEIN, HUMAN;

ADOLESCENT; BIOPSY; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HEREDITY; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MALLORY BODIES; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PREDICTIVE VALUE OF TESTS; SCOLIOSIS; SELENOPROTEINS;

EID: 85007499651     PISSN: None     EISSN: 19492553     Source Type: Journal    
DOI: 10.18632/oncotarget.13337     Document Type: Article

References (16)

1. Allmang C, Carbon P, Krol A. The SBP2 and 15.5 kD/Snu13p proteins share the same RNA binding domain: identification of SBP2 amino acids important to SECIS RNA binding. RNA. 2002; 8: 1308-1318.
2. Carter MS, Li S, Wilkinson MF. A splicing-dependent regulatory mechanism that detects translational signals. EMBO J. 1996; 15: 5965-5975.
3. Castellano S, Novoselov SV, Kryukov GV, Lescure A, Blanco E, Krol A, Gladyshev VN, Guigo R. Reconsidering the evolution of eukaryotic selenoproteins: a novel nonmammalian family with scattered phylogenetic distribution. EMBO Rep. 2004; 5: 71-77.
4. Copeland PR, Fletcher JE, Carlson BA, Hatfield DL, Driscoll DM. A novel RNA binding protein, SBP2, is required for the translation of mammalian selenoprotein mRNAs. EMBO J. 2000; 19: 306-314.
5. Driscoll DM, Chavatte L. Finding needles in a haystack. In silico identification of eukaryotic selenoprotein genes. EMBO Rep. 2004; 5: 140-141.
6. Fagegaltier D, Lescure A, Walczak R, Carbon P, Krol A. Structural analysis of new local features in SECIS RNA hairpins. Nucleic Acids Res. 2000; 28: 2679-2689.
7. Ana Ferreiro, Susana Quijano-Roy, Claire Pichereau, Behzad Moghadaszadeh, Nathalie Goemans, Carsten Bönnemann, Heinz Jungbluth, Volker Straub, Marcello Villanova, Jean-Paul Leroy, Norma B. Romero, Jean-Jacques Martin, Francesco Muntoni et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of earlyonset myopathies. Am J Hum Genet. 2002; 71: 739-749.
8. Ferreiro A, Ceuterick-de Groote C, Marks JJ, Goemans N, Schreiber G, Hanefeld F, Fardeau M, Martin JJ, Goebel HH, Richard P, Guicheney P, Bönnemann CG. Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Ann Neurol. 2004; 55: 676-686.
9. Howard MT, Aggarwal G, Anderson CB, Khatri S, Flanigan KM, Atkins JF. Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codons. EMBO J. 2005; 24: 1596-1607.
10. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5):405-24.
11. Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Quijano Roy S, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet. 2001;29(1):17-8.
12. Arbogast S, Muntoni F, FerreiroA. Selenoprotein N, mutated in SEPN-related myopathy, protects human cells against oxidative stress. Neuromuscul Disord. 2007; 17:900.
13. Paljarvi, L., Kalimo, H., Lang, H., Savontaus, M.L., Sonninen, V. Minicore myopathy with dominant inheritance. J. Neurol. Sci. 1987; 77: 11-22.
14. Engel, A. G., Gomez, M. R., Groover, R. V. Multicore disease-a recognised congenital myopathy associated with multifocal degeneration of muscle fibres. Mayo Clin. Proc. 1971; 46: 666-681.
15. Ferreiro, A., Quijano-Roy, S., Pichereau, C., Moghadaszadeh, B., Goemans, N., Bonnemann, C., Jungbluth, H., Straub, V., Villanova, M., Leroy, J.P., Romero, N. B., Martin, J.J., Muntoni, F. et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of earlyonset myopathies. Am. J. Hum. Genet. 2002; 71: 739-749.
16. Venance, S. L., Koopman, W. J., Miskie, B. A., Hegele, R. A., Hahn, A. F. Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. Neurology. 2005; 64: 395-396.