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: Yu-jin Qu, Xiu-shan Ge, Jin-li Bai, Li-wen Wang, Yan-yan Cao, Yan-yu Lu, Yu-wei Jin, Hong Wang, Fang Song
• Journal: Journal of child neurology (J Child Neurol) Vol. 30 Issue 4 Pg. 429-36 (Mar 2015) ISSN: 1708-8283 [Electronic] United States
• PMID: 25330799 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © The Author(s) 2014.

Chemical References

• NAIP protein, human
• Neuronal Apoptosis-Inhibitory Protein
• SMN2 protein, human
• Survival of Motor Neuron 2 Protein

Topics

• Age of Onset
• Asian People (genetics)
• Child, Preschool
• China
• Cohort Studies
• DNA Copy Number Variations
• Humans
• Infant
• Infant, Newborn
• Muscular Atrophy, Spinal (epidemiology, genetics)
• Neuronal Apoptosis-Inhibitory Protein (genetics)
• Survival Analysis
• Survival of Motor Neuron 2 Protein (genetics)