Akademik Veri Yönetim Sistemi
MOLECULAR APPROACHES IN MEDICINE: PERSPECTIVES OF PARASITOLOGY AND GENETICS, Yunus Emre Beyhan,Gökhan Görgişen, Editör, Nobel Yayınevi, İstanbul, ss.153-166, 2024
Spinal muscular atrophy (SMA) is a degenerative neurological condition that ranks as the second most common genetic cause of mortality among newborns globally, after Cystic Fibrosis (Lunn et al. 2008). The prevalence and carrier frequency of SMA vary among ethnic groups. Globally, it occurs in approximately 1 out of every 10,000 live births, with an average incidence of 7.8-10 per 100,000 live births (Verhaat et al. 2017; Mercuri et al. 2022). In Europe, this rate averages 11.9 per 100,000 live births (Mercuri et al. 2022). Data from the Global SMA Patient Registry, which includes 29 countries, indicate that the incidence
of SMA is equal among boys and girls (Mercuri et al. 2017). The carrier frequency ranges between 1 in 40 and 1 in 60 individuals (Phan et al. 2015).Spinal muscular atrophy (SMA) is a monogenic disease with
autosomal recessive inheritance and progressive clinical presentation.The disease typically results from the homozygous deletion of the survival motor neuron 1 (SMN1) gene. Consequently, both parents must be carriers of the defective SMN1 gene (Farrar et al. 2017). In addition to defective SMN1 gene carriers, somecarriers have two copies of SMN1 gene on the same chromosome (cis-arrangement) are called silent carrier (Luo et al. 2014).