A new allelic variant of rigid spine syndrome

Abstract

Description of clinical features of the disease in a 4-year-old boywith rigid spine syndrome is presented. Molecular genetic analysisrevealed in this patient an unknown homozygous mutation988delC in the SEPN1 gene (coding for selenoprotein N). Incontrast to previously described selenoprotein-associated casesof the disease, our patient exhibited early involvement in thepathological process of muscles of the shoulder and the pelvicgirdles.

Keywords

• rigid spine syndrome
• gene sepn1
• mutation analysis