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
- 作者: Dadali E.L.1, Kadnikova V.A.2, Sharkova I.V.2, Polyakov A.V.2
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隶属关系:
- Research Center for Medical Genetics
- Research Centre for Medical Genetics
- 期: 卷 7, 编号 2 (2013)
- 页面: 51-54
- 栏目: 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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作者简介
Elena Dadali
Research Center for Medical Genetics
Email: genclinic@yandex.ru
俄罗斯联邦, Moscow
Varvara Kadnikova
Research Centre for Medical Genetics
Email: genclinic@yandex.ru
俄罗斯联邦, Moscow
Inna Sharkova
Research Centre for Medical Genetics
Email: genclinic@yandex.ru
ORCID iD: 0000-0002-5819-4835
Cand. Sci. (Med.), leading researcher, Scientific advisory department
俄罗斯联邦, 115522, Russia, Moscow, Moskvorechie str., 1.Alexander Polyakov
Research Centre for Medical Genetics
编辑信件的主要联系方式.
Email: genclinic@yandex.ru
俄罗斯联邦, Moscow
参考
- Arbogast S., Beuvin M., Fraysse B. Oxydative stress in SEPN-related myopathy: from pathology to treatment. Ann. Neurol. 2009; 65:677–686.
- Bertini E., D’Amico A., Gualandi F., Petrini S. Congenital muscular dystrophies: a brif review. Semin Pediatr. Neurol. 2011; 18: 277–288.
- Dubowitz V. Rigid spine syndrome: a muscle syndrome in search of a name. Proc. Roy. Soc. Med. 1973; 66: 219–220.
- Echenne B., Astruc J., Brunel D. et al. Congenital muscular dystrophy and rigid spine syndrome. Neuropediatrics 1983; 14: 97–101.
- Ferreiro A., Quijano-Roy S., Pichereau C. et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am. J. Hum. Genet. 2002; 71: 739–749.
- Ferreiro A., Ceuterick-de Groote C., Marks J.J. et al. Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Ann. Neurol. 2004; 55: 676–686.
- Flangian K.M., Kerr L., Bromberg M.B. et al. Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological and genetic study. Ann. Neurol. 2000; 47: 152–161.
- Goebel H.H., Lenard H.-G., Langenbeck U., Mehl B. A form of congenital muscular dystrophy. Brain Dev. 1980; 2: 387–400.
- Jurynec M.J., Xia R., Mackrill J. et al. Selenoprotein N is required for ryantodine receptor calcium release channel activity in human and zebrafish muscule. Proc. Natl. Acad. Sci. USA 2008; 105: 12485–12490.
- Moghadaszadeh B., Desguerre I., Topaloglu H. et al. Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. Am. J. Hum. Genet. 1998; 62: 1439–1445.
- Moghadaszadeh B., Petit N., Jaillard C. et al. Mutations in SEPN1 сause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat. Genet. 2001; 29: 17–18.
- Petit N., Lescure A., Rederstorff M. Selenoprotein N. An endoplasmic reticulum glycoprotein with an early developmental expression pattern. Hum. Mol. Genet. 2003; 12: 1045–1053.
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