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
2015
Аутори:
Zarkov, MarijaStojadinovic, Aleksandra
Sekulic, Slobodan
Barjaktarovic, Iva
Stojiljkovic, Olivera
Peric, Stojan
Kekovic, Goran
Draskovic, Biljana
Stevic, Zorica
Тип документа:
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт:
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.
Кључне речи:
muscular atrophy; genetic diseases; chromosome aberations; serbia; spinal; inbornИзвор:
Vojnosanitetski Pregled, 2015, 72, 10, 859-863
DOI: 10.2298/VSP140328072Z
ISSN: 0042-8450