title: A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation.
abstract: Childhood SMAs are common neuromuscular disorders, due to the occurrence of large genomic deletions encompassing the SMN gene and often extending to involve the NAIP gene. Although NAIP deletions are more frequently observed in patients affected by the acute form of the disease, it is not possible to establish an unambiguous correlation between deletion size and clinical severity. We have investigated the effects of gender on the association between NAIP gene deletion and disease severity. NAIP deletions were screened in 197 Italian SMA patients lacking SMN; the results obtained were correlated with disease severity in male and female samples separately. No significant relationship between deletion size and clinical phenotype was observed among male subjects, whereas in females the absence of NAIP was strongly associated with a severe phenotype (p <0.0001). These results provide a possible molecular explanation for the sex-dependent phenotype variation observed in SMA patients.
authors.affiliation: Cattedra di Genetica Umana, Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, Italy. novelli@tovvx1.ccd.utovrm.it
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: S
authors.initials: S
authors.lastname: Semprini
authors.forename: F
authors.initials: F
authors.lastname: Capon
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D017362:Cyclic AMP Response Element-Binding Protein; D005260:Female; D017353:Gene Deletion; D014644:Genetic Variation; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D051616:Neuronal Apoptosis-Inhibitory Protein; D010641:Phenotype; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D012737:Sex Factors
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