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.
A new allelic variant of rigid spine syndrome
- Authors: Dadali E.L.1, Kadnikova V.A.2, Sharkova I.V.2, Polyakov A.V.2
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Affiliations:
- Research Center for Medical Genetics
- Research Centre for Medical Genetics
- Issue: Vol 7, No 2 (2013)
- Pages: 51-54
- Section: Clinical analysis
- URL: https://ogarev-online.ru/2075-5473/article/view/124591
- DOI: https://doi.org/10.17816/psaic235
- ID: 124591
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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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