title: NAIP-deletion analysis in Malaysian patients with spinal muscular atrophy.
abstract: Spinal Muscular Atrophy (SMA) is an autosomal recessive disease, which is characterized by degeneration of the anterior horn cells of the spinal cord. SMA is classified into 3 clinical subtypes, type I (severe), type II (intermediate), and type III (mild). Two genes, SMN1 and NAIP, have been identified as SMA-related genes. The SMN1 gene is now recognized as a responsible gene for the disease because it is deleted or mutated in most SMA patients. However, the role of the NAIP gene in SMA has not been fully clarified. To clarify the contribution of NAIP to the disease severity of SMA, we studied the relationship between NAIP-deletion and clinical phenotype in Malaysian patients. A total of 39 patients lacking SMN1 (12 type I, 19 type II, and 8 type III patients) were enrolled into this study. Seven out of 12 patients with type I SMA (approximately 60%) showed NAIP deletion. On the contrary, only 2 out of 20 type II patients and none of type III patients showed NAIP deletion. There was a statistically significant difference in NAIP-deletion frequency among the clinical subtypes (Fisher's exact probability test, p value = 0.014). In conclusion, according to our data that NAIP deletion was more frequent in type I SMA than in type II-III SMA, the NAIP gene may be a modifying factor for disease severity of SMA.
authors.affiliation: Human Genome Centre, Universiti Sains Malaysia, Malaysia.
authors.forename: Mohd Shamshudin
authors.initials: MS
authors.lastname: Watihayati
authors.forename: Watihayati
authors.initials: W
authors.lastname: M S
authors.forename: Azhar-Mohd-Hussin
authors.initials: AM
authors.lastname: Zabidi
authors.forename: Zabidi-Hussin
authors.initials: ZH
authors.lastname: A M H
authors.forename: Thean Hock
authors.initials: TH
authors.lastname: Tang
authors.forename: Tang
authors.initials: T
authors.lastname: T H
authors.forename: Hisahide
authors.initials: H
authors.lastname: Nishio
authors.forename: Nishio
authors.initials: N
authors.lastname: H
authors.forename: Bin Alwi
authors.initials: BA
authors.lastname: Zilfalil
authors.forename: Zilfalil
authors.initials: Z
authors.lastname: B A
mesh_terms: D000328:Adult; D002675:Child, Preschool; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008296:Malaysia; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics; D051616:Neuronal Apoptosis-Inhibitory Protein / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics; D055532:SMN Complex Proteins; D012720:Severity of Illness Index; D055533:Survival of Motor Neuron 1 Protein
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; C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein