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Deletion analysis of SMN1 and NAIP genes in southern Chinese children with spinal muscular atrophy

Journal of Zhejiang University SCIENCE B volume 10, pages 29–34 (2009)Cite this article

Abstract

Spinal muscular atrophy (SMA) is a disorder characterized by degeneration of lower motor neurons and occasionally bulbar motor neurons leading to progressive limb and trunk paralysis as well as muscular atrophy. Three types of SMA are recognized depending on the age of onset, the maximum muscular activity achieved, and survivorship: SMA1, SMA2, and SMA3. The survival of motor neuron (SMN) gene has been identified as an SMA determining gene, whereas the neuronal apoptosis inhibitory protein (NAIP) gene is considered to be a modifying factor of the severity of SMA. The main objective of this study was to analyze the deletion of SMN1 and NAIP genes in southern Chinese children with SMA. Here, polymerase chain reaction (PCR) combined with restriction fragment length polymorphism (RFLP) was performed to detect the deletion of both exon 7 and exon 8 of SMN1 and exon 5 of NAIP in 62 southern Chinese children with strongly suspected clinical symptoms of SMA. All the 32 SMA1 patients and 76% (13/17) of SMA2 patients showed homozygous deletions for exon 7 and exon 8, and all the 13 SMA3 patients showed single deletion of SMN1 exon 7 along with 24% (4/17) of SMA2 patients. Eleven out of 32 (34%) SMA1 patients showed NAIP deletion, and none of SMA2 and SMA3 patients was found to have NAIP deletion. The findings of homozygous deletions of exon 7 and/or exon 8 of SMN1 gene confirmed the diagnosis of SMA, and suggested that the deletion of SMN1 exon 7 is a major cause of SMA in southern Chinese children, and that the NAIP gene may be a modifying factor for disease severity of SMA1. The molecular diagnosis system based on PCR-RFLP analysis can conveniently be applied in the clinical testing, genetic counseling, prenatal diagnosis and preimplantation genetic diagnosis of SMA.

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Affiliations

  1. Department of Bioscience, Bengbu Medical College, Bengbu, 233000, China

    Yu-hua Liang

  2. Department of Biochemistry and Genetics, School of Medicine, Zhejiang University, Hangzhou, 310058, China

    Yu-hua Liang, Xiao-ling Chen, Chun-yue Chen, Sheng Bi, Lian-gen Mao & Xian-ning Zhang

  3. National Education Base for Basic Medical Sciences, Zhejiang University, Hangzhou, 310058, China

    Yu-hua Liang, Xiao-ling Chen, Chun-yue Chen, Sheng Bi, Lian-gen Mao & Xian-ning Zhang

  4. Children’s Hospital, School of Medicine, Zhejiang University, Hangzhou, 310003, China

    Zhong-sheng Yu & Bo-lin Zhou

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  1. Yu-hua Liang
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  2. Xiao-ling Chen
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  3. Zhong-sheng Yu
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  4. Chun-yue Chen
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  5. Sheng Bi
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  6. Lian-gen Mao
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  7. Bo-lin Zhou
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Correspondence to Xian-ning Zhang.

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The three authors contributed equally to this work

Project supported by the National Natural Science Foundation of China (No. J0710043), and the Natural Science Foundation of Zhejiang Province (No. 2007C33049), China

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Liang, Yh., Chen, Xl., Yu, Zs. et al. Deletion analysis of SMN1 and NAIP genes in southern Chinese children with spinal muscular atrophy. J. Zhejiang Univ. Sci. B 10, 29–34 (2009). https://doi.org/10.1631/jzus.B0820125

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  • DOI: https://doi.org/10.1631/jzus.B0820125

Key words

  • Spinal muscular atrophy (SMA)
  • Survival motor neuron (SMN) gene
  • Neuronal apoptosis inhibitory protein (NAIP) gene
  • Mutation

CLC number

  • R394