Pediatric Neurology
Volume 32, Issue 4 , Pages 288-290 , April 2005

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

  • Nobutada Tachi, MD, PhD

      Affiliations

    • School of Health Sciences, Sapporo Medical University, Sapporo, Japan
    • Corresponding Author InformationCommunications should be addressed to: Dr. Tachi; School of Health Sciences; Sapporo Medical University; S1 W16 Chuo-ku; 060-8556 Sapporo, Japan
    • ,
  • Sin Kikuchi, PhD

      Affiliations

    • School of Health Sciences, Sapporo Medical University, Sapporo, Japan
    • ,
  • Naoki Kozuka, PhD

      Affiliations

    • School of Health Sciences, Sapporo Medical University, Sapporo, Japan
    • ,
  • Azusa Nogami, MD

      Affiliations

    • Department of Pediatrics, Tomakomai City Hospital, Tomakomai, Japan

Received 28 July 2004 ,Accepted 1 November 2004.

References 

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

PII: S0887-8994(04)00556-9

doi: 10.1016/j.pediatrneurol.2004.11.003

Pediatric Neurology
Volume 32, Issue 4 , Pages 288-290 , April 2005

Article Tools

* Image Usage & Resolution