A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome


Senel S., CEYLANER S., CEYLANER G., Hanli Sahin A., Andrieux J., Delaunoy J.

Genetic Counseling, vol.22, no.1, pp.21-24, 2011 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 22 Issue: 1
  • Publication Date: 2011
  • Journal Name: Genetic Counseling
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.21-24
  • Keywords: Coffin Lowry syndrome, RPS6KA3 gene, New mutation, RSK2, BRAIN, MRI
  • Lokman Hekim University Affiliated: No

Abstract

Coffin-Lowry syndrome is an X-linked disorder characterized by mental retardation, characteristic facial features, skeletal abnormalities, and tapering fingers. Herein we report a novel missense mutation in exon 7 at codon 180 in the RPS6KA3 gene in a boy with Coffin-Lowry syndrome.