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, cilt.59, sa.1, ss.53-56, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 59 Sayı: 1
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1111/ped.13052
  • Dergi Adı: PEDIATRICS INTERNATIONAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.53-56
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.