title: Association of copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein gene with the natural history in a Chinese spinal muscular atrophy cohort.
abstract: We evaluated survival motor neuron 2 (SMN2) and neuronal apoptosis inhibitory protein (NAIP) gene copy distribution and the association of copy number with survival in 232 Chinese spinal muscular atrophy (SMA) patients. The SMN2 and NAIP copy numbers correlated positively with the median onset age (r = 0.72 and 0.377). The risk of death for patients with fewer copies of SMN2 or NAIP was much higher than for those with more copies (P < .01). The survival probabilities at 5 years were 5.1%, 90.7%, and 100% for 2, 3, and 4 SMN2 copies and 27.9%, 66.7%, and 87.2% for 0, 1, and 2 NAIP copies, respectively. Our results indicated that combined SMN1-SMN2-NAIP genotypes with fewer copies were associated with earlier onset age and poorer survival probability. Better survival status for Chinese type I SMA might due to a higher proportion of 3 SMN2 and a lower rate of zero NAIP.
authors.affiliation: Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, P. R. China.
authors.forename: Yu-jin
authors.initials: YJ
authors.lastname: Qu
authors.affiliation: Department of Neurology, Children's Hospital Affiliated Capital Institute of Pediatrics, Beijing, P. R. China.
authors.forename: Xiu-shan
authors.initials: XS
authors.lastname: Ge
authors.affiliation: Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, P. R. China.
authors.forename: Jin-li
authors.initials: JL
authors.lastname: Bai
authors.affiliation: Department of Neurology, Children's Hospital Affiliated Capital Institute of Pediatrics, Beijing, P. R. China.
authors.forename: Li-wen
authors.initials: LW
authors.lastname: Wang
authors.affiliation: Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, P. R. China.
authors.forename: Yan-yan
authors.initials: YY
authors.lastname: Cao
authors.affiliation: Department of Health Development, Capital Institute of Pediatrics, Beijing, P. R. China.
authors.forename: Yan-yu
authors.initials: YY
authors.lastname: Lu
authors.affiliation: Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, P. R. China.
authors.forename: Yu-wei
authors.initials: YW
authors.lastname: Jin
authors.affiliation: Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, P. R. China.
authors.forename: Hong
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, P. R. China songf_558@263.net.
authors.forename: Fang
authors.initials: F
authors.lastname: Song
mesh_terms: D017668:Age of Onset; D044466:Asian People / Q000235:genetics; D002675:Child, Preschool; D002681:China; D015331:Cohort Studies; D056915:DNA Copy Number Variations; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009134:Muscular Atrophy, Spinal / Q000453:epidemiology / Q000235:genetics*; D051616:Neuronal Apoptosis-Inhibitory Protein / Q000235:genetics*; D016019:Survival Analysis; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics
chemical_list: C496800:NAIP protein, human; D051616:Neuronal Apoptosis-Inhibitory Protein; C526477:SMN2 protein, human; D055540:Survival of Motor Neuron 2 Protein
keywords: NAIP copy number; SMN2 copy number; modifier effect; spinal muscular atrophy; survival status