Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings


Yener I. H., Topaloglu H., ERDEM ÖZDAMAR S., DAYANGAÇ ERDEN D.

PEDIATRICS INTERNATIONAL, vol.59, no.1, pp.53-56, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 59 Issue: 1
  • Publication Date: 2017
  • Doi Number: 10.1111/ped.13052
  • Journal Name: PEDIATRICS INTERNATIONAL
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.53-56
  • Hacettepe University Affiliated: Yes

Abstract

Background: In single gene disorders, patients with the same genotype may have variations in severity. One of the main factors affecting disease severity is modifier genes. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by degeneration of alpha motor neurons. Plastin 3 (PLS3) is a phenotypic modifier of SMA, and neuritin 1 (NRN1) has also been suggested as a possible modifier gene. The aim of the present study was therefore to analyze PLS3 and NRN1 expression in SMA siblings in four families.