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, cilt.22, sa.1, ss.21-24, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 22 Sayı: 1
  • Basım Tarihi: 2011
  • Dergi Adı: Genetic Counseling
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.21-24
  • Anahtar Kelimeler: Coffin Lowry syndrome, RPS6KA3 gene, New mutation, RSK2, BRAIN, MRI
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

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.