A new allelic variant of rigid spine syndrome

Resumo

Description of clinical features of the disease in a four-year-old boy with rigid spine syndrome is presented. Molecular genetic analysis revealed an unknown homozygous mutation 988delC in SEPN1 gene (coding for selenoprotein N) in this patient. In contrast to previously described selenoprotein-associated cases of the disease, our patient exhibited early involvement of muscles of the shoulder and the pelvic girdles in the course of the disease.