title: Deletion analysis of Bulgarian SMA families.
abstract: All three types of autosomal recessive spinal muscular atrophy map to chromosome region 5q13. Recent reports suggest that they are associated with deletions of two adjacent genes: SMN and NAIP. Here we report the first deletion analysis of Bulgarian SMA families. Homozygous deletion of exons 7 and 8 of the SMN gene were found in 85% of our patients, but the NAIP gene (exons 5 and 6) was deleted in only 26% of patients. To our knowledge, these frequencies are some of the lowest reported so far. The NAIP gene was deleted predominantly in severely affected patients (type I), while in the group with milder types SMA only deletions of the SMN gene were detected. Our phenotype-genotype correlation study confirmed that larger deletions are associated with more severe clinical course. The Bulgarian data support the thesis that the telomeric SMN gene could play a major role in determining SMA, while the NAIP or the centromeric SMN copy have a modifying effect on the phenotype.
authors.affiliation: Laboratory of Molecular Pathology, University Hospital of Obstetrics and Gynecology, Medical University, Sofia, Bulgaria.
authors.forename: A
authors.initials: A
authors.lastname: Jordanova
authors.forename: V
authors.initials: V
authors.lastname: Stoyanova
authors.forename: M
authors.initials: M
authors.lastname: Uzunova
authors.forename: I
authors.initials: I
authors.lastname: Litvinenko
authors.forename: I
authors.initials: I
authors.lastname: Kremensky
mesh_terms: D002031:Bulgaria; D002895:Chromosomes, Human, Pair 5; D017362:Cyclic AMP Response Element-Binding Protein; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D051616:Neuronal Apoptosis-Inhibitory Protein; D010375:Pedigree; D010641:Phenotype; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; C496800:NAIP protein, human; D009419:Nerve Tissue Proteins; D051616:Neuronal Apoptosis-Inhibitory Protein; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins