A new allelic variant of rigid spine syndrome

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Description of clinical features of the disease in a 4-year-old boy with rigid spine syndrome is presented. Molecular genetic analysis revealed in this patient an unknown homozygous mutation 988delC in the SEPN1 gene (coding for selenoprotein N). In contrast to previously described selenoprotein-associated cases of the disease, our patient exhibited early involvement in the pathological process of muscles of the shoulder and the pelvic girdles.


About the authors

Elena L. Dadali

Research Center for Medical Genetics

Email: genclinic@yandex.ru
Russian Federation, Moscow

Varvara A. Kadnikova

Research Centre for Medical Genetics

Email: genclinic@yandex.ru
Russian Federation, Moscow

Inna V. Sharkova

Research Centre for Medical Genetics

Email: genclinic@yandex.ru
ORCID iD: 0000-0002-5819-4835

Cand. Sci. (Med.), leading researcher, Scientific advisory department

Russian Federation, 115522, Russia, Moscow, Moskvorechie str., 1.

Alexander V. Polyakov

Research Centre for Medical Genetics

Author for correspondence.
Email: genclinic@yandex.ru
Russian Federation, Moscow


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Copyright (c) 2013 Dadali E.L., Kadnikova V.A., Sharkova I.V., Polyakov A.V.

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