dc.creator | Zarkov, Marija | |
dc.creator | Stojadinovic, Aleksandra | |
dc.creator | Sekulic, Slobodan | |
dc.creator | Barjaktarovic, Iva | |
dc.creator | Stojiljkovic, Olivera | |
dc.creator | Peric, Stojan | |
dc.creator | Kekovic, Goran | |
dc.creator | Draskovic, Biljana | |
dc.creator | Stevic, Zorica | |
dc.date.accessioned | 2016-05-23T11:00:56Z | |
dc.date.issued | 2015 | |
dc.identifier.issn | 0042-8450 | |
dc.identifier.uri | https://radar.ibiss.bg.ac.rs/handle/123456789/2354 | |
dc.description.abstract | Background/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. | en |
dc.description.sponsorship | Hungary-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.language | English | |
dc.rights | restrictedAccess | |
dc.source | Vojnosanitetski Pregled | |
dc.subject | muscular atrophy | |
dc.subject | genetic diseases | |
dc.subject | chromosome
aberations | |
dc.subject | serbia | |
dc.subject | spinal | |
dc.subject | inborn | |
dc.title | Association 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 | en |
dc.type | article | |
dc.rights.license | ARR | |
dcterms.abstract | Стевиц, Зорица; Зарков, Марија; Стојадиновиц, Aлександра; Секулиц, Слободан; Барјактаровиц, Ива; Стојиљковиц, Оливера; Периц, Стојан; Кековиц, Горан; Драсковиц, Биљана; | |
dc.citation.issue | 10 | |
dc.citation.volume | 72 | |
dc.identifier.doi | 10.2298/VSP140328072Z | |
dc.identifier.scopus | 2-s2.0-84943154018 | |
dc.identifier.wos | 000363353700001 | |
dc.citation.spage | 859 | |
dc.citation.epage | 863 | |
dc.type.version | publishedVersion | en |
dc.citation.rank | M23 | |