title: Spinal muscular atrophy type III: Molecular genetic characterization of Turkish patients.
abstract: Spinal Muscular Atrophy (SMA) is a neurodegenerative disease with autosomal recessive inheritance. Homozygous loss of exon 7 of the Survival of motor neuron 1 (SMN1) gene is the main cause of SMA. Although progressive muscle weakness and atrophy are common symptoms, disease severity varies from severe to mild. Type III is one of the milder and less frequent forms of SMA. In this study, we report molecular genetic characteristics of 24 Turkish type III SMA patients. Homozygous loss of SMN1 exon 7 and 8 was analysed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and multiplex ligation dependent probe amplification (MLPA). SMN2, homologue of SMN1, and Neuronal apoptosis inhibitory protein (NAIP) genes were also evaluated considering their influence on disease severity. We determined that male patients who were born in consanguineous families were predominant in our cohort and these patients mostly carry the homozygous loss of SMN1 exon 7 and 8 and four copies of SMN2 gene without NAIP deletions.
authors.affiliation: Hacettepe University, Faculty of Medicine, Department of Medical Biology, 06100, Sıhhiye, Ankara, Turkey. Electronic address: gamzeb@hacettepe.edu.tr.
authors.forename: Gamze
authors.initials: G
authors.lastname: Bora-Tatar
authors.affiliation: Hacettepe University, Faculty of Medicine, Department of Medical Biology, 06100, Sıhhiye, Ankara, Turkey.
authors.forename: Ayse
authors.initials: A
authors.lastname: Yesbek-Kaymaz
authors.affiliation: Hacettepe University, Faculty of Medicine, Department of Neurology, 06100, Sıhhiye, Ankara, Turkey.
authors.forename: Can Ebru
authors.initials: CE
authors.lastname: Bekircan-Kurt
authors.affiliation: Hacettepe University, Faculty of Medicine, Department of Neurology, 06100, Sıhhiye, Ankara, Turkey.
authors.forename: Sevim
authors.initials: S
authors.lastname: Erdem-Özdamar
authors.affiliation: Hacettepe University, Faculty of Medicine, Department of Medical Biology, 06100, Sıhhiye, Ankara, Turkey.
authors.forename: Hayat
authors.initials: H
authors.lastname: Erdem-Yurter
mesh_terms: D000328:Adult; D003241:Consanguinity; D056915:DNA Copy Number Variations; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D008297:Male; D051616:Neuronal Apoptosis-Inhibitory Protein / Q000235:genetics*; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics*; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics*; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics*; D014421:Turkey; D055815:Young Adult
chemical_list: D051616:Neuronal Apoptosis-Inhibitory Protein; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein
keywords: NAIP gene; SMN1 gene; SMN2 gene copy number; Spinal muscular atrophy type III