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Carrier frequency of spinal muscular atrophy in Thailand

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Abstract

Spinal muscular atrophy (SMA) is one of the leading causes of death in infants and young children from heritable diseases. Patients diagnosed with SMA develop symmetrical progressive muscle weakness and atrophy from degeneration of alpha motor neurons. Approximately 95% of patients have a homozygous deletion of survival motor neuron 1 (SMN1) gene in exon 7 and inherited in autosomal recessive pattern. Considering the high prevalence of SMA carrier in many population, it is possible that SMA is one of the most common autosomal recessive disorders in Thailand and Southeast Asia. In this study, we analyzed DNA from peripheral blood of 505 healthy Thai adults using quantitative PCR-based for SMN1 gene exon 7 copy number analysis. Individual samples with heterozygous deletion of SMN1 gene were confirmed with MLPA. The result identified 9 samples (1.78%) with heterozygous deletion and 39 samples as more than 2 copies of SMN1. No homozygous deletion was detected in the samples. In conclusion, we established carrier frequency of SMA in selected Thai population at 1.8% from 505 participants. The prevalence coincides with prevalence in East Asia and Caucasian population. The result could be implemented for SMA carrier screening in couples at risk in the region.

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Funding

This research project is supported by Faculty of Medicine Ramathibodi Hospital, Mahidol University [grant number RF57005].

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Authors and Affiliations

  1. Section for Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

    Donniphat Dejsuphong

  2. Research Center, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

    Aruchalean Taweewongsounton, Sermsiri Chitphuk & Wasana Stitchantrakul

  3. Department of Internal Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

    Pollawat Khemthong, Piyamitr Sritara, Atchara Tunteeratum & Thanyachai Sura

Authors
  1. Donniphat Dejsuphong
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  2. Aruchalean Taweewongsounton
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  3. Pollawat Khemthong
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  4. Sermsiri Chitphuk
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  5. Wasana Stitchantrakul
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  6. Piyamitr Sritara
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  7. Atchara Tunteeratum
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  8. Thanyachai Sura
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Contributions

DD and TS planned and designed the experiments. PK, ATu, and PS collected and provided the samples. DD, ATa, SC, and WS performed the experiments. DD and Ata analyzed the data. DD and TS wrote the paper. All authors read and approved the final version of the manuscript.

Corresponding authors

Correspondence to Donniphat Dejsuphong or Thanyachai Sura.

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Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in this study involving human participants were in accordance and approved with the ethical standards of the institutional research committee, Faculty of Medicine, Ramathibodi Hospital, Mahidol University (ID-05-51-19 V), and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Dejsuphong, D., Taweewongsounton, A., Khemthong, P. et al. Carrier frequency of spinal muscular atrophy in Thailand. Neurol Sci 40, 1729–1732 (2019). https://doi.org/10.1007/s10072-019-03885-5

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  • DOI: https://doi.org/10.1007/s10072-019-03885-5

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