title: [Utility and intricacy of molecular diagnosis of spinal muscular atrophy].
abstract: To diagnose spinal muscular atrophy (SMA), we examined the deletion of exons 7 and 8 of the survival motor neuron (SMN) gene and exon 5 of the neuronal apoptosis inhibitory protein (NAIP) gene in 7 patients from 6 unrelated families, using the polymerase chain reaction method. Two patients with type I and two with type II SMA had the deletion in SMN, whereas 2 of the 3 patients with type III had no deletion in these genes. Thus, the method was not as useful in type III as in type I and II for making a diagnosis of SMA. Together with the data previously reported by others, our data indicated the possibility that the deletion frequency in type III SMA is lower in Japanese patients (< 40%) than in non-Japanese patients (> 80%). Two siblings had SMA of different severity; the older brother having type III and the younger brother type II. Both had the same deletion in the SMN gene. The different phenotypes in these siblings with the same genotype indicated that caution is required when utilizing molecular data for genetic counseling or prenatal diagnosis of SMA.
authors.affiliation: Department of Pediatrics, Shiga Medical Center for Children, Moriyama.
authors.forename: T
authors.initials: T
authors.lastname: Fujii
authors.forename: T
authors.initials: T
authors.lastname: Miyajima
authors.forename: M
authors.initials: M
authors.lastname: Ito
authors.forename: T
authors.initials: T
authors.lastname: Okuno
authors.forename: I
authors.initials: I
authors.lastname: Mitsuyoshi
mesh_terms: D002648:Child; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D009046:Motor Neurons; D009134:Muscular Atrophy, Spinal / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D051616:Neuronal Apoptosis-Inhibitory Protein
chemical_list: C496800:NAIP protein, human; D009419:Nerve Tissue Proteins; D051616:Neuronal Apoptosis-Inhibitory Protein