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

作者：Qu Yu jin; Ge Xiu shan; Bai Jin li; Wang Li wen; Cao Yan yan; Lu Yan yu; Jin Yu wei; Wang Hong; Song Fang^*

来源：Journal of Child Neurology, 2015, 30(4): 429-436.

DOI：10.1177/0883073814553271

• spinal muscular atrophy
• SMN2 copy number
• NAIP copy number
• modifier effect
• survival status

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.

• 出版日期2015-3
• 单位首都儿科研究所