Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMA

Harahap NI 1 , Takeuchi A 2 , Yusoff S 3 , Tominaga K 4 , Okinaga T 5 , Kitai Y 6 Show all authors , Takarada T 2 , Kubo Y 7 , Saito K 7 , Sa'adah N 1 , Nurputra DK 1 , Nishimura N 8 , Saito T 9 , Nishio H 10

Affiliations 

  • 1 Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan
  • 2 Kobe Pharmaceutical University, Kobe 658-8558, Japan
  • 3 Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan; Department of Pediatrics, Universiti Sains Malaysia, Kelantan 16150, Malaysia
  • 4 Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan
  • 5 Department of Pediatrics, Bell Land General Hospital, Sakai 599-8247, Japan
  • 6 Department of Pediatric Neurology, Morinomiya Hospital, Osaka 536-0023, Japan
  • 7 Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan
  • 8 Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe 650-0871, Japan
  • 9 Division of Child Neurology, Department of Neurology, National Hospital Organization Toneyama National Hospital, Toyonaka, Japan
  • 10 Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe 650-0871, Japan. Electronic address: nishio@med.kobe-u.ac.jp
Brain Dev, 2015 Aug;37(7):669-76.
PMID: 25459970 DOI: 10.1016/j.braindev.2014.10.006

Abstract

More than 90% of spinal muscular atrophy (SMA) patients show homozygous deletion of SMN1 (survival motor neuron 1). They retain SMN2, a highly homologous gene to SMN1, which may partially compensate for deletion of SMN1. Although the promoter sequences of these two genes are almost identical, a GCC insertion polymorphism has been identified at c.-320_-321 in the SMN1 promoter. We have also found this insertion polymorphism in an SMN2 promoter in an SMA patient (Patient A) who has SMA type 2/3.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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