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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

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机构: [a]Department of Medical Genetics, Capital Institute of Pediatrics, No. 2, Yabao Road, Chaoyang District, Beijing, 100020, China [b]Department of Neurology, Children's Hospital Affiliated, Capital Institute of Pediatrics, Beijing, China [c]Department of Health Development, Capital Institute of Pediatrics, Beijing, China
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关键词: modifier effect NAIP copy number SMN2 copy number spinal muscular atrophy survival status

摘要:
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. © The Author(s) 2014.

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出版当年[2014]版:
大类 | 4 区 医学
小类 | 3 区 儿科 4 区 临床神经病学
最新[2025]版:
大类 | 3 区 医学
小类 | 3 区 儿科 4 区 临床神经病学
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出版当年[2013]版:
Q2 PEDIATRICS Q3 CLINICAL NEUROLOGY
最新[2024]版:
Q2 PEDIATRICS Q3 CLINICAL NEUROLOGY

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