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dc.creatorZarkov, Marija
dc.creatorStojadinovic, Aleksandra
dc.creatorSekulic, Slobodan
dc.creatorBarjaktarovic, Iva
dc.creatorStojiljkovic, Olivera
dc.creatorPeric, Stojan
dc.creatorKekovic, Goran
dc.creatorDraskovic, Biljana
dc.creatorStevic, Zorica
dc.date.accessioned2016-05-23T11:00:56Z
dc.date.issued2015
dc.identifier.issn0042-8450
dc.identifier.urihttps://ibiss-r.rcub.bg.ac.rs/handle/123456789/2354
dc.description.abstractBackground/Aim. Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of alpha motor neurons in the spinal cord and the medulla oblongata, causing progressive muscle weakness and atrophy. The aim of this study was to determine association between the SMN2 gene copy number and disease phenotype in Serbian patients with SMA with homozygous deletion of exon 7 of the SMN1 gene. Methods. The patients were identified using regional Serbian hospital databases. Investigated clinical characteristics of the disease were: patients' gender, age at disease onset, achieved and current developmental milestones, disease duration, current age, and the presence of the spinal deformities and joint contractures. The number of SMN1 and SMN2 gene copies was determined using real-time polymerase chain reaction (PCR). Results. Among 43 identified patients, 37 (86.0\%) showed homozygous deletion of SMN1 exon 7. One (2.7\%) of 37 patients had SMA type I with 3 SMN2 copies, 11(29.7\%) patients had SMA type II with 3.1 +/- 0.7 copies, 17 (45.9\%) patients had SM\_A type III with 3.7 +/- 0.9 copies, while 8 (21.6\%) patients had SMA type IV with 4.2 +/- 0.9 copies. There was a progressive increase in the SMN2 gene copy number from type II towards type IV (p < 0.05). A higher SMN2 gene copy number was associated with better current motor performance (p < 0.05). Conclusion. In the Serbian patients with SMA, a higher SMN2 gene copy number correlated with less severe disease phenotype. A possible effect of other phenotype modifiers should not be neglected.
dc.description.sponsorshipHungary-Serbia IPA Cross-Border Co-Operation Program: Research Cooperation to Improve Symptoms in Neurological Disorders, and Quality of Life of Patients {[}HU-SRB/0901/214/052]
dc.languageEnglish
dc.rightsrestrictedAccess
dc.sourceVojnosanitetski Pregled
dc.subjectmuscular atrophy
dc.subjectgenetic diseases
dc.subjectchromosome aberations
dc.subjectserbia
dc.subjectspinal
dc.subjectinborn
dc.titleAssociation between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene
dc.typearticle
dc.rights.licenseARR
dcterms.abstractСтевиц, Зорица; Зарков, Марија; Стојадиновиц, Aлександра; Секулиц, Слободан; Барјактаровиц, Ива; Стојиљковиц, Оливера; Периц, Стојан; Кековиц, Горан; Драсковиц, Биљана;
dc.citation.issue10
dc.citation.volume72
dc.identifier.doi10.2298/VSP140328072Z
dc.identifier.scopus2-s2.0-84943154018
dc.identifier.wos000363353700001
dc.citation.spage859
dc.citation.epage863
dc.type.versionpublishedVersionen
dc.citation.rankM23


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