A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1

Pediatric Neurology

Volumn 32, Issue 4, 2005, Pages 288-290

  Tachi, Nobutada ^a   Kikuchi, Sin ^a   Kozuka, Naoki ^a   Nogami, Azusa ^b  

^a SAPPORO MEDICAL UNIVERSITY   (Japan)

^b Tomakomai City Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN MU CHAIN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE CLASSIFICATION; DISEASE SEVERITY; FEMALE; FEMUR; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; JAPAN; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYELINATED NERVE; NERVE BIOPSY; NEUROLOGIC DISEASE; ONSET AGE; PRIORITY JOURNAL; RESPIRATORY DISTRESS; RESPIRATORY FAILURE; SPINAL MUSCULAR ATROPHY; SURAL NERVE;

EID: 15744388520     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2004.11.003     Document Type: Article

References (18)

1. E. Bertini, J.L. Gadisseux, G. Palmieri Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm A variant of infantile spinal muscular atrophy Am J Med Genet 33 1989 328 335
2. K. Zerres, K.E. Davies 59th ENMC International Workshop: Spinal muscular atrophies: Recent progress and revised diagnostic criteria. 17-19 April 1998. Soestduinen, The Netherlands Neuromuscul Disord 9 1999 272 278
3. G. Novelli, F. Capon, L. Tamisari Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13 J Med Genet 32 1995 216 219
4. K.F. Swaiman, S.T. Iannaccone Anterior horn cell and cranial motor neuron disease K.F. Swaiman S. Ashwal Pediatric neurology Principles & practice 3rd ed. 1999 Mosby London 1162 1177
5. K. Grohmann, T.F. Wienker, K. Saar Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21 Am J Hum Genet 65; 1999 1459 1462
6. K. Grohmann, M. Schuelke, A. Diers Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1 Nat Genet 29 2001 75 77
7. J.M. Jacobs, S. Love Qualitative and quantitative morphology of human sural nerve at different ages Brain 108; 1985 897 924
8. H. Schmalbruch, H.J. Jensen, M. Bjaerg, Z. Kamieniecka, L. Kurland A new mouse mutant with progressive motor neuronopathy J Neuropathol Exp Neurol 50 1991 192 204
9. G.A. Cox, C.L. Mahaffey, W.N. Frankel Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele Neuron 21 1998 1327 1337
10. J.M. Wilmshurst, A. Bye, C. Rittey Severe infantile axonal neuropathy with respiratory failure Muscle Nerve 24; 2001 760 768
11. U. Mohan, V.P. Misra, J. Britto, F. Muntoni, R.H.M. King, P.K. Thomas Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement Neuromuscul Disord 11 2001 395 399
12. K. Grohmann, R. Varon, P. Stolz Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) Ann Neurol 54 2003 719 724
13. M. Pitt, H. Houlden, J. Jacobs Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1 Brain 126 2003 2682 2692
14. I. Maystadt, M. Zarhrate, P. Landrieu Allelic heterogeneity of SMARD1 at the IGHMBP2 locus Hum Mut 23 2004 525 526
15. T.R. Mizuta, Y. Fukita, T. Miyoshi, A. Shimizu, T. Honjo Isolation of cDNA encoding a binding protein specific to 5'-phosphorylated single-stranded DNA with G-rich sequences Nucleic Acids Res 21; 1993 1761 1766
16. Y. Fukita, T.R. Mizuta, M. Shirozu, K. Ozawa, A. Shimizu, T. Honjo The human S mu bp-2, a DNA-binding protein specific to the single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region J Biol Chem 268; 1993 17463 17470
17. N.V. Grishin The R3H motif A domain that binds single-stranded nucleic acids Trends Biochem Sci 23; 1998 329 330
18. W.S. Mohan, Z.Q. Chen, X. Zhang Human S mu binding protein-2 binds to the drug response element and transactivates the human apoA-I promoter Role of gemfibrozil J Lipid Res 39 1998 255 267